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Citizen Science (CS) as a term implies a great deal of approaches and scopes involving many different fields of science. The number of the relevant projects globally has been increased significantly in the recent years. Large scale ecological questions can be answered only through extended observation networks and CS projects can support this effort. Although the need of such projects is apparent, an important part of scientific community cast doubt on the reliability of CS data sets.
The Clinical and Translational Science Awards (CTSA) program of the National Center for Advancing Translational Sciences (NCATS) seeks to improve population health by accelerating the translation of scientific discoveries in the laboratory and clinic into practices for the community. CTSAs achieve this goal, in part, through their pilot project programs that fund promising early career investigators and innovative early-stage research projects across the translational research spectrum. However, there have been few reports on individual pilot projects and their impacts on the investigators who receive them and no studies on the long-term impact and outcomes of pilot projects.
Developing and implementing home telehealth (HTH) services for patients with chronic conditions is a challenge. HTH services provide continuous and integrated care to patients, but very often pilot projects face non-adoption and abandonment issues. Change processes in healthcare are often complex and require learning to adapt to non-linear and unpredictable events. Complexity science can thus provide a complementary view to the predominant Quality Improvement (QI) approach in healthcare. In this study of two pilot projects in a Swedish hospital, we explore how a theory-driven approach can be used (a) to support the development of a self-monitoring HTH service in hospital care and (b) to evaluate staff and patients' experiences from early adoption.
The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
The genome sequence framework provided by the human genome project allows us to precisely map human genetic variations in order to study their association with disease and their direct effects on gene function. Since the description of tumor suppressor genes and oncogenes several decades ago, both germ-line variations and somatic mutations have been established to be important in cancer-in terms of risk, oncogenesis, prognosis and response to therapy. The Cancer Genome Atlas initiative proposed by the NIH is poised to elucidate the contribution of somatic mutations to cancer development and progression through the re-sequencing of a substantial fraction of the total collection of human genes-in hundreds of individual tumors and spanning several tumor types. We have developed the CancerGenes resource to simplify the process of gene selection and prioritization in large collaborative projects. CancerGenes combines gene lists annotated by experts with information from key public databases. Each gene is annotated with gene name(s), functional description, organism, chromosome number, location, Entrez Gene ID, GO terms, InterPro descriptions, gene structure, protein length, transcript count, and experimentally determined transcript control regions, as well as links to Entrez Gene, COSMIC, and iHOP gene pages and the UCSC and Ensembl genome browsers. The user-friendly interface provides for searching, sorting and intersection of gene lists. Users may view tabulated results through a web browser or may dynamically download them as a spreadsheet table. CancerGenes is available at http://cbio.mskcc.org/cancergenes.
BioMart is a freely available, open source, federated database system that provides a unified access to disparate, geographically distributed data sources. It is designed to be data agnostic and platform independent, such that existing databases can easily be incorporated into the BioMart framework. BioMart allows databases hosted on different servers to be presented seamlessly to users, facilitating collaborative projects between different research groups. BioMart contains several levels of query optimization to efficiently manage large data sets and offers a diverse selection of graphical user interfaces and application programming interfaces to ensure that queries can be performed in whatever manner is most convenient for the user. The software has now been adopted by a large number of different biological databases spanning a wide range of data types and providing a rich source of annotation available to bioinformaticians and biologists alike.
The paper presents a recommendation model for developing new smart city and smart health projects. The objective is to provide recommendations to citizens about smart city and smart health startups to improve entrepreneurship and leadership. These recommendations may lead to the country's advancement and the improvement of national income and reduce unemployment. This work focuses on designing and implementing an approach for processing and analyzing tweets inclosing data related to smart city and smart health startups and providing recommended projects as well as their required skills and competencies. This approach is based on tweets mining through a machine learning method, the Word2Vec algorithm, combined with a recommendation technique conducted via an ontology-based method. This approach allows discovering the relevant startup projects in the context of smart cities and makes links to the needed skills and competencies of users. A system was implemented to validate this approach. The attained performance metrics related to precision, recall, and F-measure are, respectively, 95%, 66%, and 79%, showing that the results are very encouraging.
Genomic medicine applications have the potential to considerably improve health care in developing countries in the coming years. However, if developing countries do not improve their capacity for research and development (R&D) in the field, they might be left out of the genomics revolution. Large-scale and widely accessible databases for storing and analyzing genomic data are crucial tools for the advancement of genomic medicine. Building developing countries' capacity in genomics is accordingly closely linked to their involvement in international human genomics research initiatives. The purpose of this paper is to conduct a pilot study on the impact of international open science genomics projects on capacity building in R&D in developing countries. Using indicators we developed in previous work to measure the performance of international open science genomics projects, we analyse the policies and practices of four key projects in the field: the International HapMap Project, the Human Heredity and Health in Africa Initiative, the Malaria Genomic Epidemiology Network and the Structural Genomics Consortium. The results show that these projects play an important role in genomics capacity building in developing countries, but play a more limited role with regard to the potential redistribution of the benefits of research to the populations of these countries. We further suggest concrete initiatives that could facilitate the involvement of researchers from developing countries in the international genomics research community and accelerate capacity building in the developing world.
The Genomes On Line Database (GOLD) is a comprehensive resource that provides information on genome and metagenome projects worldwide. Complete and ongoing projects and their associated metadata can be accessed in GOLD through pre-computed lists and a search page. As of September 2007, GOLD contains information on more than 2900 sequencing projects, out of which 639 have been completed and their sequence data deposited in the public databases. GOLD continues to expand with the goal of providing metadata information related to the projects and the organisms/environments towards the Minimum Information about a Genome Sequence' (MIGS) guideline. GOLD is available at http://www.genomesonline.org and has a mirror site at the Institute of Molecular Biology and Biotechnology, Crete, Greece at http://gold.imbb.forth.gr/
Background: Research is increasingly being emphasized from an early stage in medical students' careers. Medical student involvement in research and authorship of peer-reviewed manuscripts have been shown to enhance their academic performance-both in the short term and long term. The aim of this study was to evaluate outcomes and motivations of the summer studentship research program at our institution, using Vroom's expectancy theory as a conceptual framework. Methods: We utilized a mixed-methods approach to our study. Two databases (PubMed™ and Google Scholar™) were searched for publication data. In addition, students and supervisors of the program at the University of Otago were invited to provide comments on the program. Qualitative data were analyzed using an inductive, pragmatic approach which involved coding responses and grouping codes into common themes. Results: Between 2007 and 2016, 1,345 projects were completed, of which 326 (24.2%) resulted in a peer-reviewed publication. Students made up 48.1% of the first-authors. Three themes each emerged from the students and the supervisors' survey. Student themes included: motives for undertaking a summer studentship, administrative benefits and barriers, and perceived outcomes of the program. Supervisor themes included: motivations for engaging in the summer studentship program, administrative benefits and barriers, and expectations placed on the student. These themes are consistent with Vroom's expectancy theory where motivation is related to expectancy, instrumentality, and valence. Conclusion: A dedicated program to foster an interest in research by medical students has great value as judged by an overall publication rate of 24.2%. In addition, it provides opportunities to explore areas of interest in depth, acquire research skills, pilot new avenues of research, and create professional networks. Student research program needs to be well founded and well supported including administrative and statistical support.
The purpose of this study is to describe the programmatic characteristics of current nutrition incentive projects supported by the Gus Schumacher Nutrition Incentive Program (GusNIP). Specifically, implementation characteristics of nutrition incentive projects that were funded in 2019 were compared across brick and mortar (B&M) and farm direct (FD) sites in the United States. Across 10 nutrition incentive (NI) grantees, there were 621 sites that reported data from B&M (n = 156) and FD (n = 465) locations. Among B&M sites, the common food retail types included: large chain traditional supermarket (n = 49) and independent traditional supermarket (n = 46). Among FD sites, the most frequently reported food retail types were farmers markets (n = 371). For B&M sites, the most common financial instruments were loyalty cards (n = 67, 43.5%), followed by an automatic discount at the register (n = 41, 26.6%), and coupons (n = 29, 18.8%). FD sites frequently reported physical financial instruments including tokens (n = 272, 61.1%), followed by paper vouchers (n = 131, 29.4%). Supplemental Nutrition Assistance Program (SNAP) purchases that were eligible to trigger incentives included mainly "all fresh FVs" at B&M sites (n = 98, 48.5%) and "all SNAP eligible items" at FD sites (n = 417, 85.8%). FVs eligible for incentive redemption included mainly "all fresh FVs" for both B&M sites (n = 110, 65.5%) and FD sites (n = 370, 67.6%). In terms of incentive-to-SNAP level ratio, both B&M sites and FD sites reported that they commonly utilized a 1:1 incentive-to-SNAP level ratio (n = 106, 68.8% and n = 261, 94.9% respectively). This paper will provide foundational understanding of the heterogeneity of GusNIP NI projects-specifically between B&M and FD settings-in order to inform future national work and ultimately demonstrate the impact of NI projects on food security status and dietary quality.
This is the sixth in a series of papers reporting Sustainability in Health care by Allocating Resources Effectively (SHARE) in a local healthcare setting. The SHARE program was established to investigate a systematic, integrated, evidence-based approach to disinvestment within a large Australian health service. This paper describes the methods employed in undertaking pilot disinvestment projects. It draws a number of lessons regarding the strengths and weaknesses of these methods; particularly regarding the crucial first step of identifying targets for disinvestment.
Physiological function, disease expression and drug effects vary by time-of-day. Clock disruption in mice results in cardio-metabolic, immunological and neurological dysfunction; circadian misalignment using forced desynchrony increases cardiovascular risk factors in humans. Here we integrated data from remote sensors, physiological and multi-omics analyses to assess the feasibility of detecting time dependent signals - the chronobiome - despite the "noise" attributable to the behavioral differences of free-living human volunteers. The majority (62%) of sensor readouts showed time-specific variability including the expected variation in blood pressure, heart rate, and cortisol. While variance in the multi-omics is dominated by inter-individual differences, temporal patterns are evident in the metabolome (5.4% in plasma, 5.6% in saliva) and in several genera of the oral microbiome. This demonstrates, despite a small sample size and limited sampling, the feasibility of characterizing at scale the human chronobiome "in the wild". Such reference data at scale are a prerequisite to detect and mechanistically interpret discordant data derived from patients with temporal patterns of disease expression, to develop time-specific therapeutic strategies and to refine existing treatments.
An estimated 40% of people living with HIV smoke cigarettes. Although smoking rates in the United States have been declining in recent years, people living with HIV continue to smoke cigarettes at twice the rate of the general population. Mobile health (mHealth) technology is an effective tool for people living with a chronic illness, such as HIV, as currently 84% of households in the United States report that they have a smartphone. Although many studies have used mHealth interventions for smoking cessation, few studies have recruited people living with HIV who smoke.
External randomised pilot trials aim to determine whether a future definitive randomised controlled trial (RCT) should be conducted, and if so, how. However, not every pilot trial that suggests that a definitive trial will be feasible will progress to a definitive study. In this study, we surveyed corresponding authors of external randomised pilot trial publications to assess pilot trial outcomes in terms of feasibility and progression.
The genetic architecture of ischemic stroke is complex and is likely to include rare or low frequency variants with high penetrance and large effect sizes. Such variants are likely to provide important insights into disease pathogenesis compared to common variants with small effect sizes. Because a significant portion of human functional variation may derive from the protein-coding portion of genes we undertook a pilot study to identify variation across the human exome (i.e., the coding exons across the entire human genome) in 10 ischemic stroke cases. Our efforts focused on evaluating the feasibility and identifying the difficulties in this type of research as it applies to ischemic stroke. The cases included 8 African-Americans and 2 Caucasians selected on the basis of similar stroke subtypes and by implementing a case selection algorithm that emphasized the genetic contribution of stroke risk. Following construction of paired-end sequencing libraries, all predicted human exons in each sample were captured and sequenced. Sequencing generated an average of 25.5 million read pairs (75 bp×2) and 3.8 Gbp per sample. After passing quality filters, screening the exomes against dbSNP demonstrated an average of 2839 novel SNPs among African-Americans and 1105 among Caucasians. In an aggregate analysis, 48 genes were identified to have at least one rare variant across all stroke cases. One gene, CSN3, identified by screening our prior GWAS results in conjunction with our exome results, was found to contain an interesting coding polymorphism as well as containing excess rare variation as compared with the other genes evaluated. In conclusion, while rare coding variants may predispose to the risk of ischemic stroke, this fact has yet to be definitively proven. Our study demonstrates the complexities of such research and highlights that while exome data can be obtained, the optimal analytical methods have yet to be determined.
Large-scale otoscopic and audiometric assessment of populations is difficult due to logistic impracticalities, particularly in low- and middle-income countries (LMIC). We report a novel assessment methodology based on training local field workers, advances in audiometric testing equipment and cloud-based technology.
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