External Scientific Report - Updated food composition database for nutrient intake

This report is the final report of the EFSA contract CFT/EFSA/DCM/2011/03. The aim of the project was to provide EFSA with an updated food composition database covering approximately 1750 foods in combination with additional FoodEx2 facet descriptors included in the EFSA FoodEx2 classification system, and to expand the dataset to include harmonised information on the most common composite recipes of European countries and harmonised information on food supplements. Proposals for models of nutrient composition, composite dishes and food supplement databases were developed as well as guidelines for mapping food data in national datasets to EFSA FoodEx2 codes and facet descriptors. A model for data transfer, compatible with the EuroFIR technical annex and CEN Food Data Standard, and the EFSA data structure was developed and tested. Fourteen national food database compiler organisations supplied initial food lists mapped to the EFSA food list. Information on commonly consumed composite dishes was provided by compilers from thirteen countries and information on food supplements was provided by compilers from eight countries. Datasets compatible with EFSA‟s data structure were produced based on the models. In addition, guidelines developed and limitations of the data produced are discussed.EFS

1000 Norms Project: Protocol of a cross-sectional study cataloging human variation

Background Clinical decision-making regarding diagnosis and management largely depends on comparison with healthy or ‘normal’ values. Physiotherapists and researchers therefore need access to robust patient-centred outcome measures and appropriate reference values. However there is a lack of high-quality reference data for many clinical measures. The aim of the 1000 Norms Project is to generate a freely accessible database of musculoskeletal and neurological reference values representative of the healthy population across the lifespan. Methods/design In 2012 the 1000 Norms Project Consortium defined the concept of ‘normal’, established a sampling strategy and selected measures based on clinical significance, psychometric properties and the need for reference data. Musculoskeletal and neurological items tapping the constructs of dexterity, balance, ambulation, joint range of motion, strength and power, endurance and motor planning will be collected in this cross-sectional study. Standardised questionnaires will evaluate quality of life, physical activity, and musculoskeletal health. Saliva DNA will be analysed for the ACTN3 genotype (‘gene for speed’). A volunteer cohort of 1000 participants aged 3 to 100 years will be recruited according to a set of self-reported health criteria. Descriptive statistics will be generated, creating tables of mean values and standard deviations stratified for age and gender. Quantile regression equations will be used to generate age charts and age-specific centile values. Discussion This project will be a powerful resource to assist physiotherapists and clinicians across all areas of healthcare to diagnose pathology, track disease progression and evaluate treatment response. This reference dataset will also contribute to the development of robust patient-centred clinical trial outcome measures

Assessing fatigue and sleep in chronic diseases using physiological signals from wearables : A pilot study

Problems with fatigue and sleep are highly prevalent in patients with chronic diseases and often rated among the most disabling symptoms, impairing their activities of daily living and the health-related quality of life (HRQoL). Currently, they are evaluated primarily via Patient Reported Outcomes (PROs), which can suffer from recall biases and have limited sensitivity to temporal variations. Objective measurements from wearable sensors allow to reliably quantify disease state, changes in the HRQoL, and evaluate therapeutic outcomes. This work investigates the feasibility of capturing continuous physiological signals from an electrocardiography-based wearable device for remote monitoring of fatigue and sleep and quantifies the relationship of objective digital measures to self-reported fatigue and sleep disturbances. 136 individuals were followed for a total of 1,297 recording days in a longitudinal multi-site study conducted in free-living settings and registered with the German Clinical Trial Registry (DRKS00021693). Participants comprised healthy individuals (N = 39) and patients with neurodegenerative disorders (NDD, N = 31) and immune mediated inflammatory diseases (IMID, N = 66). Objective physiological measures correlated with fatigue and sleep PROs, while demonstrating reasonable signal quality. Furthermore, analysis of heart rate recovery estimated during activities of daily living showed significant differences between healthy and patient groups. This work underscores the promise and sensitivity of novel digital measures from multimodal sensor time-series to differentiate chronic patients from healthy individuals and monitor their HRQoL. The presented work provides clinicians with realistic insights of continuous at home patient monitoring and its practical value in quantitative assessment of fatigue and sleep, an area of unmet need.publishedVersionPeer reviewe

Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing

BACKGROUND: The World Health Organization recommends drug-susceptibility testing of Mycobacterium tuberculosis complex for all patients with tuberculosis to guide treatment decisions and improve outcomes. Whether DNA sequencing can be used to accurately predict profiles of susceptibility to first-line antituberculosis drugs has not been clear. METHODS: We obtained whole-genome sequences and associated phenotypes of resistance or susceptibility to the first-line antituberculosis drugs isoniazid, rifampin, ethambutol, and pyrazinamide for isolates from 16 countries across six continents. For each isolate, mutations associated with drug resistance and drug susceptibility were identified across nine genes, and individual phenotypes were predicted unless mutations of unknown association were also present. To identify how whole-genome sequencing might direct first-line drug therapy, complete susceptibility profiles were predicted. These profiles were predicted to be susceptible to all four drugs (i.e., pansusceptible) if they were predicted to be susceptible to isoniazid and to the other drugs or if they contained mutations of unknown association in genes that affect susceptibility to the other drugs. We simulated the way in which the negative predictive value changed with the prevalence of drug resistance. RESULTS: A total of 10,209 isolates were analyzed. The largest proportion of phenotypes was predicted for rifampin (9660 [95.4%] of 10,130) and the smallest was predicted for ethambutol (8794 [89.8%] of 9794). Resistance to isoniazid, rifampin, ethambutol, and pyrazinamide was correctly predicted with 97.1%, 97.5%, 94.6%, and 91.3% sensitivity, respectively, and susceptibility to these drugs was correctly predicted with 99.0%, 98.8%, 93.6%, and 96.8% specificity. Of the 7516 isolates with complete phenotypic drug-susceptibility profiles, 5865 (78.0%) had complete genotypic predictions, among which 5250 profiles (89.5%) were correctly predicted. Among the 4037 phenotypic profiles that were predicted to be pansusceptible, 3952 (97.9%) were correctly predicted. CONCLUSIONS: Genotypic predictions of the susceptibility of M. tuberculosis to first-line drugs were found to be correlated with phenotypic susceptibility to these drugs. (Funded by the Bill and Melinda Gates Foundation and others.

Co-Creation of Massive Open Online Courses to Improve Digital Health Literacy in Pregnant and Lactating Women

Background: Digital health literacy (DHL) increases the self-efficacy and empowerment of pregnant and lactating women (PLW) in using the Internet for health issues. The European project IC-Health aimed to improve DHL among PLW, through the co-creation of Massive Open Online Courses (MOOCs). Methods: The co-creation of the MOOCs included focus groups and the creation of communities of practice (CoPs) with PLW and healthcare professionals aimed to co-design the MOOCs. The quantitative measures of MOOCs’ acceptability, experience in the co-creation process and increase in DHL (dimensions of finding, understanding and appraisal) were assessed. Results: 17 PLW participated in focus groups, 113 participants were included in CoPs and 68 participants evaluated the acceptability of MOOCs. A total of 6 MOOCs aimed at improving PLW’s DHL were co-designed. There was a significant improvement in self-perceived DHL after using MOOCs (p-value < 0.001). The acceptability of MOOCs and co-creation experience were positively valued. Conclusions: The preliminary results of the quantitative assessment showed a higher self-perceived DHL after the IC-Health MOOCs. These results suggest that IC-Health MOOCs and the co-creation methodology appear to be a viable process to carry out an intervention aimed to improve DHL levels in European PLW

IC-Health Project: Development of MOOCs to Promote Digital Health Literacy: First Results and Future Challenges

Digital health literacy (DHL) is the ability to search, understand and evaluate informationfrom digital media and apply that knowledge to solve health problems. However, currently manycitizens have not developed these skills, and this compromises not only the self-management of theirhealth, but the possibility that health services are socially sustainable. The objective of this article wasto present the objectives, activities and results of the IC-Health project whose objective was to developa series of massive open online courses (MOOCs) to improve the DHL skills of European citizens.An exploratory report on DHL’s current evidence was developed. Furthermore, a survey, focus groupsand group interviews were conducted to determine DHL levels and the needs of population cohorts(children; adolescents; pregnant and lactating women; the elderly; and people affected by type 1and type 2 diabetes). A participation strategy with end users was designed through a communityof practice for the creation of MOOCs with the seven European countries that participated in theconsortium. Thirty-five MOOCs were developed in eight different languages and a descriptive and exploratory assessment of MOOCs was conducted with new participants. This first evaluationindicated that MOOCs can be an effective educational resource for DHL and a facilitator of shareddecision-making processes. The process of co-creation of MOOCs, the components, the challenges andthe opportunities identified in this European project could be useful for other developers of MOOCswho want to co-create interventions with beneficiaries in similar settings. Further longer-term actionsare still needed to improve citizens’ DHL

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

BackgroundDeletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes.MethodsTo clarify the phenotype of 16p11.2 deletion, we examined the psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. Using an extensive standardized assessment battery across three clinical sites, 85 individuals with the 16p11.2 deletion and 153 familial control subjects were evaluated for symptom presentation and clinical diagnosis.ResultsIndividuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmental disorders (>90%). The most commonly diagnosed conditions were developmental coordination disorder, phonologic processing disorder, expressive and receptive language disorders (71% of individuals >3 years old with a speech and language-related disorder), and autism spectrum disorder. Individuals with the 16p11.2 deletion not meeting diagnostic criteria for autism spectrum disorder had a significantly higher prevalence of autism-related characteristics compared with the familial noncarrier control group. Individuals with the 16p11.2 deletion had a range of intellectual ability, but IQ scores were 26 points lower than noncarrier family members on average.ConclusionsClinically referred individuals with the 16p11.2 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-defined group to study the emergence of developmental difficulties, particularly associated with the broader autism phenotype

Supplementary Material for: Fatigue-related changes of daily function: most promising measures for the digital age

Background: Fatigue is a prominent symptom in many diseases, and is strongly associated with impaired daily function. The measurement of daily function is currently almost always done with questionnaires, which are subjective and imprecise. With the recent advances of digital wearable technologies, novel approaches to evaluate daily function quantitatively and objectively in real life conditions are increasingly possible. This also creates new possibilities to measure fatigue-related changes of daily function using such technologies. Summary: This review examines in immune-mediated inflammatory and neurodegenerative diseases, which parameters may have the greatest potential to reflect fatigue-related changes of daily function. Key Messages: Results of a standardized analysis of the literature reporting about perception-, capacity- and performance-evaluating assessment tools indicate that changes of the following parameters: physical activity, independence of daily living, social participation, working life, mental status, cognitive and aerobic capacity, and supervised and unsupervised mobility performance have the highest potential to reflect fatigue-related changes of daily function. These parameters thus hold the greatest potential for quantitatively measuring fatigue in representative diseases in real life conditions, e.g. with digital wearable technologies. Furthermore, to the best of our knowledge, this is a new approach to analysing evidence for the design of performance-based digital assessment protocols in human research, which may stimulate further systematic research in this area

MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits

Regulator of G-protein Signaling 2 (RGS2) is a key regulator of G-protein-coupled signaling pathways involved in fear and anxiety. Data from rodent models and genetic analysis of anxiety-related traits and disorders in humans suggest down-regulation of RGS2 expression to be a risk factor for anxiety. Here we investigated, whether genetic variation in microRNAs mediating posttranscriptional down-regulation of RGS2 may be a risk factor for anxiety as well. 75 microRNAs predicted to regulate RGS2 were identified by four bioinformatic algorithms and validated experimentally by luciferase reporter gene assays. Specificity was confirmed for six microRNAs (hsa-miR-1271-5p, hsa-miR-22-3p, hsa-miR-3591-3p, hsa-miR-377-3p, hsa-miR-4717-5p, hsa-miR-96-5p) by disrupting their seed sequence at the 3′ untranslated region of RGS2. Hsa-miR-4717-5p showed the most robust effect on RGS2 and regulated two other candidate genes of anxiety disorders (CNR1 and IKBKE) as well. Two SNPs (rs150925, rs161427) within and 1,000 bp upstream of the hostgene of hsa-miR-4717-5p (MIR4717) show a minor allele frequency greater than 0.05. Both were in high linkage disequilibrium (r2 = 1, D′ = 1) and both major (G) alleles showed a trend for association with panic disorder with comorbid agoraphobia in one of two patient/control samples (combined npatients = 497). Dimensional anxiety traits, as described by Anxiety Sensitivity Index (ASI) and Agoraphobic Cognitions Questionnaire (ACQ) were significantly higher among carriers of both major (G) alleles in a combined patient/control sample (ncombined = 831). Taken together, data indicate that MIR4717 regulates human RGS2 and contributes to the genetic risk towards anxiety-related traits. © 2015 Wiley Periodicals, Inc