Automatic identification of physical activity intensity and modality from the fusion of accelerometry and heart rate data

Background: Physical activity (PA) is essential to prevent and to treat a variety of chronic diseases. The automated detection and quantification of PA over time empowers lifestyle interventions, facilitating reliable exercise tracking and data-driven counseling. Methods: We propose and compare various combinations of machine learning (ML) schemes for the automatic classification of PA from multi-modal data, simultaneously captured by a biaxial accelerometer and a heart rate (HR) monitor. Intensity levels (low/moderate/vigorous) were recognized, as well as for vigorous exercise, its modality (sustained aerobic/resistance/mixed). In total, 178.63 h of data about PA intensity (65.55% low/18.96% moderate/15.49% vigorous) and 17.00 h about modality were collected in two experiments: one in free-living conditions, another in a fitness center under controlled protocols. The structure used for automatic classification comprised: a) definition of 42 time-domain signal features, b) dimensionality reduction, c) data clustering, and d) temporal filtering to exploit time redundancy by means of a Hidden Markov Model (HMM). Four dimensionality reduction techniques and four clustering algorithms were studied. In order to cope with class imbalance in the dataset, a custom performance metric was defined to aggregate recognition accuracy, precision and recall. Results: The best scheme, which comprised a projection through Linear Discriminant Analysis (LDA) and k-means clustering, was evaluated in leave-one-subject-out cross-validation; notably outperforming the standard industry procedures for PA intensity classification: score 84.65%, versus up to 63.60%. Errors tended to be brief and to appear around transients. Conclusions: The application of ML techniques for pattern identification and temporal filtering allowed to merge accelerometry and HR data in a solid manner, and achieved markedly better recognition performances than the standard methods for PA intensity estimation

Optimización de las redes de tratamiento en drogodependencia mediante el uso de servicios cognitivos en la nube

La adhesión al tratamiento en el ámbito de la drogodependencia está fuertemente ligada al éxito del mismo. Sin embargo, la alta tasa de abandono en los programas relacionados con la adicción a la cocaína, es un rasgo común y creciente en la mayoría de los centros dedicados al seguimiento y recuperación de pacientes consumidores. Dado que el tratamiento de las adicciones implica un gran consumo de recursos socio-sanitarios y que los recursos especializados en drogodependencia son muy limitados, el abandono del tratamiento se convierte en un grave problema. La motivación de este trabajo es mejorar la planificación y selección de las redes terapéuticas disponibles en adicción a la cocaína. Aprovechando la tecnología de IBM, que facilita la integración de servicios cognitivos en la nube, se ha desarrollado una plataforma web que cumple dos funciones: (1) almacenar la información de cada expediente de forma precisa y homogénea; (2) mediante un modelo predictivo basado en dicha información, estimar la probabilidad de éxito de un paciente (entendida como la probabilidad de completar el tratamiento), evitando así el consumo inadecuado de recursos asistenciales

Proyecto PREDIRCAM 2. Análisis preliminar de uso y valoración de la plataforma

En la actualidad, la prevalencia de las enfermedades no transmisibles (Non-communicable diseases NCD) y la cantidad de muertes causadas por éstas es muy elevada, en su mayoría, consecuencia del envejecimiento de la población, el aumento de la obesidad y los hábitos de vida sedentarios. En este trabajo se describen el funcionamiento y los resultados preliminares del proyecto Predircam 2, destinado al desarrollo y validación de una plataforma inteligente de tecnologías biomédicas para la monitorización, prevención y tratamiento personalizados del sobrepeso, la obesidad y la prevención de enfermedades asociadas como la diabetes, hipertensión arterial o alteraciones del metabolismo lipídico. El objetivo de este trabajo es presentar los resultados preliminares del análisis del uso de la plataforma, la evaluación de la usabilidad y la valoración de la atención recibida por los pacientes en relación a los profesionales sanitarios

Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

The mechanisms triggering metastasis in pheochromocytoma/paraganglioma are unknown, hindering therapeutic options for patients with metastatic tumors (mPPGL). Herein we show by genomic profiling of a large cohort of mPPGLs that high mutational load, microsatellite instability and somatic copy-number alteration burden are associated with ATRX/TERT alterations and are suitable prognostic markers. Transcriptomic analysis defines the signaling networks involved in the acquisition of metastatic competence and establishes a gene signature related to mPPGLs, highlighting CDK1 as an additional mPPGL marker. Immunogenomics accompanied by immunohistochemistry identifies a heterogeneous ecosystem at the tumor microenvironment level, linked to the genomic subtype and tumor behavior. Specifically, we define a general immunosuppressive microenvironment in mPPGLs, the exception being PD-L1 expressing MAML3-related tumors. Our study reveals canonical markers for risk of metastasis, and suggests the usefulness of including immune parameters in clinical management for PPGL prognostication and identification of patients who might benefit from immunotherapy

Think and Act: Reflective Tool for professionals working with families (TART). Summary version

The IO3 aims to help organise and articulate reflection by the professional who works with families in situations of vulnerability or that are at risk and encourages professionals to continue questioning themselves about the processes of accompanying families with a broad, systemic, and ecological perspective. - The content of TART (IO3) is focused on a series of specific challenges of attention and intervention with today’s families in Europe. These challenges are listed in the previous IO by describing situations (IO1) and mentioning the main challenges that were identified by the professionals, parents, and young people (IO2). - The tool can be used both by the direct care professionals themselves to address their own practice, as well as by professionals who are dedicated to supervising teams, or by professionals who guide the professional practices of university students

Think and Act: Reflective Tool for professionals working with families (TART)

This tool, Think and Act: Reflective Tool for Professionals working with Families (TART) (hereinafter TART) has been created within the framework of the Erasmus + Grow in Family Today project (hereinafter GIFT) (2018-FR01-KA202-0488115) with the participation of 4 European countries (France, Spain, Italy and Romania) represented by 4 entities and/or professional services that attend families in vulnerable situations (Caminante-FR, Consell Comarcal del Vallès Occidental-ESP, Casa di Ramia-IT and Holtis-RO) and the universities of 4 European countries (Pau et Pays de l’Adour University-UPPA-FR; Barcelona University and Lleida University-ESP; Padova University and Verona University-IT; Iasi University-RO). Within the framework of the GIFT project, two previous intellectual outputs have been created that are antecedents to and complement this current output. The first of them "Growing in family today: the challenge of diversity" addresses the issue of the family and the exercise of parenthood in the family today from the perspective of diversity, and identifies the main challenges in terms of intervention, defined by the components of the aforementioned partnership. The second output, entitled “Representations of growing in family today” focuses on the view held by families, fathers, mothers, sons and daughters, as well as professionals, of what it means to grow in a family today. Both intellectual outputs are antecedents of this third intellectual output and contribute valuable elements to nurture the reflective processes that are proposed here..

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

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). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

Spread of a SARS-CoV-2 variant through Europe in the summer of 2020

[EN] Following its emergence in late 2019, the spread of SARS-CoV-21,2 has been tracked by phylogenetic analysis of viral genome sequences in unprecedented detail3,4,5. Although the virus spread globally in early 2020 before borders closed, intercontinental travel has since been greatly reduced. However, travel within Europe resumed in the summer of 2020. Here we report on a SARS-CoV-2 variant, 20E (EU1), that was identified in Spain in early summer 2020 and subsequently spread across Europe. We find no evidence that this variant has increased transmissibility, but instead demonstrate how rising incidence in Spain, resumption of travel, and lack of effective screening and containment may explain the variant’s success. Despite travel restrictions, we estimate that 20E (EU1) was introduced hundreds of times to European countries by summertime travellers, which is likely to have undermined local efforts to minimize infection with SARS-CoV-2. Our results illustrate how a variant can rapidly become dominant even in the absence of a substantial transmission advantage in favourable epidemiological settings. Genomic surveillance is critical for understanding how travel can affect transmission of SARS-CoV-2, and thus for informing future containment strategies as travel resumes.S