Abstract
One of the most pressing challenges in genomic medicine is to understand the role played by genetic variation in health and disease. Thanks to the exploration of genomic variants at large ...scale, hundreds of thousands of disease-associated loci have been uncovered. However, the identification of variants of clinical relevance is a significant challenge that requires comprehensive interrogation of previous knowledge and linkage to new experimental results. To assist in this complex task, we created DisGeNET (http://www.disgenet.org/), a knowledge management platform integrating and standardizing data about disease associated genes and variants from multiple sources, including the scientific literature. DisGeNET covers the full spectrum of human diseases as well as normal and abnormal traits. The current release covers more than 24 000 diseases and traits, 17 000 genes and 117 000 genomic variants. The latest developments of DisGeNET include new sources of data, novel data attributes and prioritization metrics, a redesigned web interface and recently launched APIs. Thanks to the data standardization, the combination of expert curated information with data automatically mined from the scientific literature, and a suite of tools for accessing its publicly available data, DisGeNET is an interoperable resource supporting a variety of applications in genomic medicine and drug R&D.
Muscling In on Cancer Lucia, Alejandro; Ramírez, Manuel
The New England journal of medicine,
09/2016, Volume:
375, Issue:
9
Journal Article
Peer reviewed
Investigators recently described a study of mouse models of cancer, in which they found that contracting muscle fibers synthesize an anticancer myokine, interleukin-6.
Hippocrates is reported to have ...said, “Walking is man’s best medicine.” Regular exercise, including daily brisk walking, is associated with a lower risk of several cancers and with lower risks of tumor recurrence and death among survivors, particularly of colorectal and breast cancers. Data suggest a potential dose-dependent benefit of exercise against colon cancer and possibly postmenopausal breast cancer. People with the highest exercise loads have a 40% lower cancer-related mortality than the general population.
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But all these findings are ones of association: persons who exercise may engage in other healthy behaviors or have better access to medical services, leading . . .
This work aims to shed light on the ultimate causes of structural unemployment in the Spanish region of Andalusia where it persistently exceeds the already high national average. The origins of ...modern Andalusia hark back to the Early Modern Age when most Iberian states amalgamated into a single entity. Unlike its northern counterparts, Andalusia was mostly a Muslim country and its incorporation in the Western European world was implemented through forced assimilation. Five centuries after the conquest, the transposition of northern institutions into the South has resulted in a backward region with age-old problems of economic development and unemployment. I have brought together elements such as violence, landownership, trust, and the role of the state, from the point of view of the original institutional economics
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BFBNIB, IZUM, KILJ, NUK, PILJ, SAZU, UL, UM, UPUK
The current study examines researcher–practitioner collaborations in the context of employee activism, a context in which the role of reflexivity and theorisation relate in unique ways. Specifically, ...we examine the collaboration between researchers and a practitioner sustainability manager, in the context of an ongoing organisational sustainability campaign at a French business school. Within the context of an ethnographic, participant observer study, we examine how the roles of “theory” and “practice” are distributed in dynamic ways, and how, across the study, roles are challenged and inverted, oscillating in dialectical moments which we term “praxis encounters”. We contribute to growing debates around academic–practitioner collaborations by showing how the roles of researchers and practitioners evolve dialectically over the course of a project, how employee activism may be studied using collaborative approaches, and how human resource managers may support employee activism. We call for future research about the variety of such dynamics across diverse contexts.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
•SARS-CoV-2 may infect immature olfactory sensory neurons.•Olfactory sensory neurons and the blood brain barrier may allow infection of the brain.•The distribution of ACE2, or novel cellular entry ...proteins, will limit viral spread.•Animal models may be of limited value in studying COVID-19 and the brain.•Post-mortem histological approaches may be insufficient to study COVID-19 in the CNS.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in Wuhan, China in December 2019. On February 11, the World Health Organization (WHO) announced the name for the new illness caused by SARS-CoV-2: COVID-19. By March 11, the outbreak of COVID-19 was declared a pandemic by the WHO. This virus has extensively altered daily life for many across the globe, while claiming hundreds of thousands of lives. While fundamentally a respiratory illness, many infected individuals experience symptoms that involve the central nervous system (CNS). It is likely that many of these symptoms are the result of the virus residing outside of the CNS. However, the current evidence does indicate that the SARS-CoV-2 virus can use olfactory neurons (or other nerve tracts) to travel from the periphery into the CNS, and that the virus may also enter the brain through the blood–brain barrier (BBB). We discuss how the virus may use established infection mechanisms (ACE2, NRP1, TMPRSS2, furin and Cathepsin L), as well mechanisms still under consideration (BASIGIN) to infect and spread throughout the CNS. Confirming the impact of the virus on the CNS will be crucial in dealing with the long-term consequences of the epidemic.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
MEMBPLUGIN: studying membrane complexity in VMD Guixà-González, Ramon; Rodriguez-Espigares, Ismael; Ramírez-Anguita, Juan Manuel ...
Bioinformatics,
05/2014, Volume:
30, Issue:
10
Journal Article
Peer reviewed
Open access
Computer simulations are giving way to more complex and accurate studies of biological membranes by molecular dynamics (MD) simulations. The analysis of MD trajectories comprises the biophysical ...characterization of membrane properties or the study of protein–lipid interactions and dynamics. However, there is a lack of automated tools to analyse MD simulations of complex membrane or membrane-protein systems. Here we present MEMBPLUGIN, a plugin for the Visual Molecular Dynamics package that provides algorithms to measure a host of essential biophysical properties in simulated membranes. MEMBPLUGIN features are accessible both through a user-friendly graphical interface and as command-line procedures to be invoked in analysis scripts.
Availability and implementation: MEMBPLUGIN is a VMD extension written in Tcl. Multi-platform source code, documentation and tutorials are freely available at http://membplugin.sourceforge.net.
Contact:
toni.giorgino@isib.cnr.it or jana.selent@upf.edu
Supplementary information:
Supplementary data are available at Bioinformatics online.
Asset mapping is a participatory methodology that engages community members in identifying services and settings that promote health and well‐being. This study aimed to identify community assets from ...the perspective of Latinx immigrant families with youth with disabilities. Latinx immigrant families (n = 21) participated in the mapping, followed by a reflection session and an open forum (n = 30). The findings revealed that families identified faith‐based organizations and social service agencies as some of the main assets in their communities, while they identified mental health services as the most needed. The results also showed that participants preferred to utilize services and resources that are within walking distance of their homes, provide safe spaces, treat them well, offer bilingual services, do not require documentation, and are affordable. This study has important implications for community scholars and practitioners interested in implementing asset‐based methodologies that focus on participants as experts of their own realities and agents of change and that promote advocacy and empowerment actions.
Highlights
Churches provide Latinx families with formal and informal services.
Latinx immigrant families identifed the need for mental health services.
Latinx families identifed services provided in Spanish as assets.
Some community settings like local parks received mixed reviews from immigrant families.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK, VSZLJ
According to the World Health Organization (WHO), Diabetes Mellitus (DM) is one of the most prevalent diseases in the world. It is also associated with a high mortality index. Diabetic foot is one of ...its main complications, and it comprises the development of plantar ulcers that could result in an amputation. Several works report that thermography is useful to detect changes in the plantar temperature, which could give rise to a higher risk of ulceration. However, the plantar temperature distribution does not follow a particular pattern in diabetic patients, thereby making it difficult to measure the changes. Thus, there is an interest in improving the success of the analysis and classification methods that help to detect abnormal changes in the plantar temperature. All this leads to the use of computer-aided systems, such as those involved in artificial intelligence (AI), which operate with highly complex data structures. This paper compares machine learning-based techniques with Deep Learning (DL) structures. We tested common structures in the mode of transfer learning, including AlexNet and GoogleNet. Moreover, we designed a new DL-structure, which is trained from scratch and is able to reach higher values in terms of accuracy and other quality measures. The main goal of this work is to analyze the use of AI and DL for the classification of diabetic foot thermograms, highlighting their advantages and limitations. To the best of our knowledge, this is the first proposal of DL networks applied to the classification of diabetic foot thermograms. The experiments are conducted over thermograms of DM and control groups. After that, a multi-level classification is performed based on a previously reported thermal change index. The high accuracy obtained shows the usefulness of AI and DL as auxiliary tools to aid during the medical diagnosis.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Summary
Restricting children's exposures to marketing of unhealthy foods and beverages is a global obesity prevention priority. Monitoring marketing exposures supports informed policymaking. This ...study presents a global overview of children's television advertising exposure to healthy and unhealthy products. Twenty‐two countries contributed data, captured between 2008 and 2017. Advertisements were coded for the nature of foods and beverages, using the 2015 World Health Organization (WHO) Europe Nutrient Profile Model (should be permitted/not‐permitted to be advertised). Peak viewing times were defined as the top five hour timeslots for children. On average, there were four times more advertisements for foods/beverages that should not be permitted than for permitted foods/beverages. The frequency of food/beverages advertisements that should not be permitted per hour was higher during peak viewing times compared with other times (P < 0.001). During peak viewing times, food and beverage advertisements that should not be permitted were higher in countries with industry self‐regulatory programmes for responsible advertising compared with countries with no policies. Globally, children are exposed to a large volume of television advertisements for unhealthy foods and beverages, despite the implementation of food industry programmes. Governments should enact regulation to protect children from television advertising of unhealthy products that undermine their health.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
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