Virtual reality simulation of a quadrotor to monitor dependent people at home

Unmanned aerial vehicles (UAVs) represent an assistance solution for home care of dependent persons. These aircraft can cover the home, accompany the person, and position themselves to take photographs that can be analyzed to determine the person's mood and the assistance needed. In this context, this work principally aims to design a tool to aid in the development and validation of the navigation algorithms of an autonomous vision-based UAV for monitoring dependent people. For that, a distributed architecture has been proposed based on the real-time communication of two modules, one of them in charge of the dynamics of the UAV, the trajectory planning and the control algorithms, and the other devoted to visualizing the simulation in an immersive virtual environment. Thus, a system has been developed that allows the evaluation of the behavior of the assistant UAV from a technological point of view, as well as to carry out studies from the assisted person's viewpoint. An initial validation of a quadrotor model monitoring a virtual character demonstrates the advantages of the proposed system, which is an effective, safe and adaptable tool for the development of vision-based UAVs to help dependents at home.This work was partially supported by Ministerio de Ciencia, Innovación y Universidades, Agencia Estatal de Investigación/European Regional Development Fund under PID2019106084RB-I00 and DPI2016-80894-R grants, and by CIBERSAM of the Instituto de Salud Carlos III

Prevalence of Fetal Alcohol Spectrum Disorders (FASD) among Children Adopted from Eastern European Countries: Russia and Ukraine

Fetal alcohol spectrum disorders; Adopted children; Cognitive disorderTrastornos del espectro alcohólico fetal; Niño adoptado; Trastorno cognitivoTrastorns de l'espectre alcohòlic fetal; Nens adoptats; Trastorn cognitiuFetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disorders. Children adopted internationally from countries where alcohol consumption during pregnancy is very high are at greater risk for FASD. Lack of expertise in diagnosing FASD and mixed neurodevelopmental and behavioral signs due to abandonment complicate a timely diagnosis. The aim of this study was to determine the prevalence of FASD in adopted children. Children between the ages of 8 and 24 adopted from Russia and Ukraine were evaluated for clinical and historical features of FASD. Of the 162 children evaluated, 81 (50%) met FASD diagnostic criteria. Thirty-three (20.4%) children had fetal alcohol syndrome (FAS), 28 (17.2%) had partial FAS, 2 (1.2%) had alcohol-related birth defects (ARBD) and 18 (11.1%) had alcohol-related neurodevelopmental disorder (ARND). Of the 81 children in which fetal alcohol exposure could not be confirmed, many had manifestations that would have established a diagnosis of FASD if a history of maternal alcohol consumption was confirmed. In a population of children with a high risk of prenatal alcohol exposure (adoptees from Eastern European countries), at least 50% showed manifestations associated with FASD. The reported prevalence in this study is in line with the results obtained in a previous study as well as in orphanages of origin

Brief interventions for alcohol use disorders in low- and middle-income countries: barriers and potential solutions.

Global alcohol consumption and harmful use of alcohol is projected to increase in the coming decades, and most of the increase will occur in low- and middle-income countries (LMICs); which calls for cost-effective measures to reduce alcohol exposure in these countries. One such evidence based measure is screening and brief intervention (BI) for alcohol problems. Some of the characteristics of BI make them a particularly appealing choice of interventions in low-resource settings. However, despite evidence of effectiveness, implementation of BI in LMICs is rare. In this paper we discuss barriers to implementation of BI in LMICs, with examples from Latin America and India. Key barriers to implementation of BI in LMICs are the lack of financial and structural resources. Specialized services for alcohol use disorders are limited or non-existent. Hence primary care is often the only possible alternative to implement BI. However, health professionals in such settings generally lack training to deal with these disorders. In our review of BI research in these countries, we find some promising results, primarily in countries from Latin America, but so far there is limited research on effectiveness. Appropriate evaluation of efficacy and effectiveness of BI is undermined by lack of generalisability and methodological limitations. No systematic and scientific efforts to explore the implementation and evaluation of BI in primary and community platforms of care have been published in India. Innovative strategies need to be deployed to overcome supply side barriers related to specialist manpower shortages in LMICs. There is a growing evidence on the effectiveness of non-specialist health workers, including lay counsellors, in delivering frontline psychological interventions for a range of disorders including alcohol use disorders in LMICs. This paper is intended to stimulate discussion among researchers, practitioners and policy-makers in LMICs because increasing access to evidence based care for alcohol use disorders in LMICs would need a concerted effort from all these stakeholders

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

Producción CientíficaMale breast cancer (MBC) is a rare disease that represents <1 % of all breast cancers (BCs). We analyze the results of a multicenter study performed in Spanish familial MBC including family history of hereditary breast and ovarian cancer syndrome (HBOCS) and clinicopathological features. We also study the relationship between BRCA1/BRCA2 mutational status in male relatives affected with cancer (MAC) and, family history and tumor types. The study included 312 men index cases with family history of HBOCS and 61 MAC BRCA1/2 mutation-carriers. Family history, histological grade (HG), clinicopathological and immunohistochemistry data were collected. BRCA1/2 mutation analyses were performed by direct sequencing or screening methods and the large rearrangements by multiplex ligation dependent probe amplification. We found 49 mutation-carriers (15.7 %), 95.9 % with BRCA2 mutations. BRCA2 mutation-carriers were associated with families with at least one MBC and one BC in female (type II; p = 0.05). Strong association were found between the presence of pathogenic mutations in MBCs and the advanced HG (p = 0.003). c.658_659delTG, c.2808_2811delACAA, c.6275_6276delTT and c.9026_9030delATCAT were the most prevalent mutations. In 61 MAC we found 20 mutations in BRCA1 and 41 in BRCA2. For MAC we show that mutational status was differentially associated with family history (p = 0.018) and tumor type, being BRCA2 mutations linked with BC and prostatic cancer (p = 0.018). MBC caused by BRCA1/2 mutations define two types of MBCs. The most frequent caused by BRCA2 mutation linked to type II families and the rarest one attributed to BRCA1 mutation. Tumor associated with MAC suggest that only BRCA2 mutations have to do with a specific type of cancer (BC and prostatic cancer); but the linkage to tumors is questionable for BRCA1 mutations

Towards new recommendations to reduce the burden of alcohol-induced hypertension in the European Union

Background: Hazardous and harmful alcohol use and high blood pressure are central risk factors related to premature non-communicable disease (NCD) mortality worldwide. A reduction in the prevalence of both risk factors has been suggested as a route to reach the global NCD targets. This study aims to highlight that screening and interventions for hypertension and hazardous and harmful alcohol use in primary healthcare can contribute substantially to achieving the NCD targets. Methods: A consensus conference based on systematic reviews, meta-analyses, clinical guidelines, experimental studies, and statisticalmodelling which had been presented and discussed in five preparatory meetings, was undertaken. Specifically, we modelled changes in blood pressure distributions and potential lives saved for the five largest European countries if screening and appropriate intervention rates in primary healthcare settings were increased. Recommendations to handle alcohol-induced hypertension in primary healthcare settings were derived at the conference, and their degree of evidence was graded. Results: Screening and appropriate interventions for hazardous alcohol use and use disorders could lower blood pressure levels, but there is a lack in implementing these measures in European primary healthcare. Recommendations included (1) an increase in screening for hypertension (evidence grade: high), (2) an increase in screening and brief advice on hazardous and harmful drinking for people with newly detected hypertension by physicians, nurses, and other healthcare professionals (evidence grade: high), (3) the conduct of clinical management of less severe alcohol use disorders for incident people with hypertension in primary healthcare (evidence grade: moderate), and (4) screening for alcohol use in hypertension that is not well controlled (evidence grade: moderate). The first three measures were estimated to result in a decreased hypertension prevalence and hundreds of saved lives annually in the examined countries. Conclusions: The implementation of the outlined recommendations could contribute to reducing the burden associated with hypertension and hazardous and harmful alcohol use and thus to achievement of the NCD targets. Implementation should be conducted in controlled settings with evaluation, including, but not limited to, economic evaluation.Peer reviewe

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Abstract The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared to information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known non-pathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification. This article is protected by copyright. All rights reserved.Peer reviewe

Proceedings of the 13th annual conference of INEBRIA

CITATION: Watson, R., et al. 2016. Proceedings of the 13th annual conference of INEBRIA. Addiction Science & Clinical Practice, 11:13, doi:10.1186/s13722-016-0062-9.The original publication is available at https://ascpjournal.biomedcentral.comENGLISH SUMMARY : Meeting abstracts.https://ascpjournal.biomedcentral.com/articles/10.1186/s13722-016-0062-9Publisher's versio