Personalized smart environments to increase inclusion of people with Down's Syndrome

Most people with Downs Syndrome (DS) experience low integration with society. Recent research and new opportunities for their integration in mainstream education and work provided numerous cases where levels of achievement exceeded the (limiting) expectations. This paper describes a project, POSEIDON, aiming at developing a technological infrastructure which can foster a growing number of services developed to support people with DS. People with DS have their own strengths, preferences and needs so POSEIDON will focus on using their strengths to provide support for their needs whilst allowing each individual to personalize the solution based on their preferences. This project is user-centred from its inception and will give all main stakeholders ample opportunities to shape the output of the project, which will ensure a final outcome which is of practical usefulness and interest to the intended users

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis-regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes.</p

Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders

Abstract Exposure to early life trauma increases the risk of psychopathology later in life. Here we investigated if ANK3 mRNA levels influence the relationship between childhood trauma experiences and clinical characteristics in mental disorders. A sample of 174 patients with bipolar disorder and 291 patients with schizophrenia spectrum disorder were included. Patients were diagnosed using the Structured Clinical Interview for DSM-IV, and childhood trauma was assessed using the childhood trauma questionnaire. Age at illness onset and number of psychotic and affective episodes were assessed from interview and medical records. Current depressive symptoms were measured using the calgary depression scale for schizophrenia and the inventory for depressive symptomatology. ANK3 expression was analyzed in whole blood using the Illumina HumanHT-12 v4 Expression BeadChip. Analyses were carried out with the Process adjusted for confounders. Within the total sample, patients with both high ANK3 expression and with the most severe childhood sexual abuse had more manic/hypomanic episodes and an earlier age at onset of the first episode. ANK3 mRNA levels also moderated the relationship between emotional neglect and manic/hypomanic episodes. Our results suggest that ANK3 expression levels moderate the association between specific types of childhood trauma and affective traits in mental disorders

Network European society of cardiology task force conflict of Interest Policies and Disclosure Requirements Among European Society of Cardiology National Cardiovascular Journals

no abstract availabl

Conflict of interest policies and disclosure requirements among european society of cardiology national cardiovascular journals - Políticas de conflictos de intereses y requisitos para su declaración en las revistas cardiovasculares nacionales de la Sociedad Europea de Cardiología

Disclosure of potential conflicts of interest is used by biomedical journals to guarantee credibility and transparency of the scientific process. Conflict of interest disclosure, however, is not systematically nor consistently dealt with by journals. Recent joint editorial efforts paved the way towards the implementation of uniform vehicles for conflicts of interest disclosure. This paper provides a comprehensive editorial perspective on classical conflict of interest-related issues. New insights into current conflicts of interest policies and practices among European Society of Cardiology national cardiovascular journals, as derived from a cross-sectional survey using a standardized questionnaire, are discussed

Conflitti di interesse e requisiti di trasparenza nell'ambito delle Riviste Nazionali di Cardiologia dei paesi membri della Societa Europea di Cardiologia.

Disclosure of potential conflicts of interest (COI) is used by biomedical journals to guarantee credibility and transparency of the scientific process. COI disclosure, however, is not systematically nor consistently dealt with by journals. Recent joint editorial efforts paved the way towards the implementation of uniform vehicles for COI disclosure. This paper provides a comprehensive editorial perspective on classical COI-related issues. New insights into current COI policies and practices among European Society of Cardiology national cardiovascular journals, as derived from a cross-sectional survey using a standardised questionnaire, are discussed

Políticas de conflictos de intereses y requisitos para su declaración en las revistas cardiovasculares nacionales de la Sociedad Europea de Cardiología

Las revistas biomédicas utilizan la declaración de posibles conflictos de intereses para garantizar la credibilidad y la transparencia del proceso científico. Sin embargo, las revistas no abordan la declaración de conflictos de intereses de manera sistemática ni uniforme. Recientes esfuerzos editoriales conjuntos han abierto el camino a la aplicación de herramientas uniformes para la declaración de conflictos de intereses. En este artículo se presenta una visión integral sobre cuestiones clásicas relacionadas con los conflictos de intereses desde un punto de vista editorial. Además, a partir de los datos de un estudio transversal basado en el empleo de un cuestionario estandarizado, se comentan nuevas apreciaciones sobre las políticas y los actuales procedimientos editoriales relativos a los conflictos de intereses en las diversas revistas cardiovasculares nacionales de la Sociedad Europea de Cardiología