Scientists have been trying to understand the molecular mechanisms of diseases to design preventive and therapeutic strategies for a long time. For some diseases, it has become evident that it is not enough to obtain a catalogue of the disease-related genes but to uncover how disruptions of molecular networks in the cell give rise to disease phenotypes. Moreover, with the unprecedented wealth of information available, even obtaining such catalogue is extremely difficult. We developed a comprehensive gene-disease association database by integrating associations from several sources that cover different biomedical aspects of diseases. In particular, we focus on the current knowledge of human genetic diseases including mendelian, complex and environmental diseases. To assess the concept of modularity of human diseases, we performed a systematic study of the emergent properties of human gene-disease networks by means of network topology and functional annotation analysis. The results indicate a highly shared genetic origin of human diseases and show that for most diseases, including mendelian, complex and environmental diseases, functional modules exist. Moreover, a core set of biological pathways is found to be associated with most human diseases. We obtained similar results when studying clusters of diseases, suggesting that related diseases might arise due to dysfunction of common biological processes in the cell. For the first time, we include mendelian, complex and environmental diseases in an integrated gene-disease association database and show that the concept of modularity applies for all of them. We furthermore provide a functional analysis of disease-related modules providing important new biological insights, which might not be discovered when considering each of the gene-disease association repositories independently. Hence, we present a suitable framework for the study of how genetic and environmental factors, such as drugs, contribute to diseases. The gene-disease networks used in this study and part of the analysis are available at http://ibi.imim.es/DisGeNET/DisGeNETweb.html#Download.

Summary: Objective: Social media, web and mobile technologies are increasingly used in healthcare and directly support patient-centered care. Patients benefit from disease self-management tools, contact to others, and closer monitoring. Researchers study drug efficiency, or recruit patients for clinical studies via these technologies. However, low communication barriers in social-media, limited privacy and security issues lead to problems from an ethical perspective. This paper summarizes the ethical issues to be considered when social media is exploited in healthcare contexts. Methods: Starting from our experiences in social-media research, we collected ethical issues for selected social-media use cases in the context of patient-centered care. Results were enriched by collecting and analyzing relevant literature and were discussed and interpreted by members of the IMIA Social Media Working Group. Results: Most relevant issues in social-media applications are confidence and privacy that need to be carefully preserved. The patient-physician relationship can suffer from the new information gain on both sides since private information of both healthcare provider and consumer may be accessible through the Internet. Physicians need to ensure they keep the borders between private and professional intact. Beyond, preserving patient anonymity when citing Internet content is crucial for research studies. Conclusion: Exploiting medical social-media in healthcare applications requires a careful reflection of roles and responsibilities. Availability of data and information can be useful in many settings, but the abuse of data needs to be prevented. Preserving privacy and confidentiality of online users is a main issue, as well as providing means for patients or Internet users to express concerns on data usage.

Health conditions, immune dysfunction, and premature aging associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19. The T21RS COVID-19 Initiative launched an international survey for clinicians or caregivers on patients with COVID-19 and DS. Data collected between April and October 2020 (N=1046) were analysed and compared with the UK ISARIC4C survey of hospitalized COVID-19 patients with and without DS. The mean age of COVID-19 patients with DS in the T21RS survey was 29 years (SD = 18). Similar to the general population, the most frequent signs and symptoms of COVID-19 were fever, cough, and shortness of breath. Joint/muscle pain and vomiting or nausea were less frequent (p < 0.01), whereas altered consciousness/confusion were more frequent (p < 0.01). Risk factors for hospitalization and mortality were similar to the general population with the addition of congenital heart defects as a risk factor for hospitalization. Mortality rates showed a rapid increase from age 40 and were higher in patients with DS (T21RS DS versus non-DS patients: risk ratio (RR) = 3.5 (95%-CI=2.6;4.4), ISARIC4C DS versus non-DS patients: RR = 2.9 (95%-CI=2.1;3.8)) even after adjusting for known risk factors for COVID-19 mortality. Leading signs/symptoms of COVID-19 and risk factors for severe disease course are similar to the general population. However, individuals with DS present significantly higher rates of medical complications and mortality, especially from age 40. Down Syndrome Affiliates in Action, DSMIG-USA, GiGi's Playhouse, Jerome Lejeune Foundation, LuMind IDSC Foundation, The Matthew Foundation, NDSS, National Task Group on Intellectual Disabilities and Dementia Practices.

Journal of Medical Internet Research - International Scientific Journal for Medical Research, Information and Communication on the Internet

Background: In the last few years, the number of mobile apps for health professionals has increased exponentially. Nevertheless, there is a lack of knowledge about the professional use, training requirements, and quality perception of these apps among health care professionals such as nurses. Considering that the nursing profession is the largest segment of health care workforce in many countries such as Spain, the impact of the use of health apps by these professionals can be critical to the future of modern health care. Objective: The main objective of this study was to determine if nurses were using health apps professionally and what types of apps they were using. The secondary objectives were (1) to find out if, among nurses, there is a need for training in the use of health apps and (2) to explore nurses’ perceptions of health professional apps, determining whether there is a need for a certification process for health apps and the type of institution or organization that should review and validate these apps for professional use. Methods: After an initial piloting survey, all registered nurses at the Nursing Association of Barcelona were invited to participate in a 34-item online survey. Eventually, 1293 nurses participated in the survey; however, 52 did not complete the survey properly, omitting both age or gender information, and they were excluded from the analysis. Results: About half of the respondents (600/1241, 48.35%) had health professional apps installed on their devices and were included for analysis. Most participants in the survey were women (474/600, 79.0%) and the remaining were men (126/600, 21.0%). The most popular types of apps used and installed among nurses were related to drug information, health calculators, and health guidelines. Overall, 97.0% (582/600) of nurses thought that the health apps should be certified, and 80.0% (480/600) agreed that the certification process should be carried out by professional or health institutions. Furthermore, 14.5% (87/600) of participants mentioned that they were asked by their patients to prescribe a health app and only 6.5% (28/430) recommended them often. Most nurses (354/433, 81.8%) who answered the question about the importance of receiving specific training on using and prescribing health apps considered this point a very relevant issue. Conclusions: About half of the nurses in Catalonia use health apps for professional purposes, and they believe that these types of tools should be validated and certified by health or professional institutions before using them in clinical environments. Although the prescription of health apps in clinical environments is infrequent among nurses, they would be willing to prescribe apps if they were certified by a health organization. Finally, among nurses, there is a need for training in using and prescribing health apps for health care purposes.

As genome-wide association studies (GWAS) have grown in size, the number of genetic variants that have been associated per disease has correspondingly increased. Despite this increase in the number of single-nucleotide polymorphisms (SNPs) identified per disease, their biological interpretation has in many cases remained elusive. To address this, we have combined GWAS results with orthogonal sources of evidence, namely the current knowledge of molecular pathways; real-world clinical data from six million patients; RNA expression across tissues from Alzheimer’s disease (AD) patients, and purpose-built rodent models for experimental validation. In more detail, first we show that when examined at a pathway level, analysis of all GWAS studies groups AD in a cluster with disorders of immunity and inflammation. Using clinical data, we show that the degree of comorbidity of these diseases with AD correlates with the strength of their genetic association with molecular participants in the Janus kinases/signal transducer and activator of transcription (JAK-STAT) pathway. Using four independent RNA expression datasets we then find evidence for the altered regulation of JAK-STAT pathway genes in AD. Finally, we use both in vitro and in vivo rodent models to demonstrate that Aβ induces gene expression of the key drivers of this pathway, providing experimental evidence to validate these data-driven observations. These results therefore nominate JAK-STAT anomalies as a prominent aetiopathological event in AD and hence a potential target for therapeutic development, and moreover demonstrate a de novo multi-modal approach to derive information from rapidly increasing genomic datasets.