Towards Multi-Lingual Pneumonia Research Data Collection Using the Community-Acquired Pneumonia International Cohort Study Database

Background: Although multilingual interfaces are preferred by most users when they have a choice, organizations are often unable to support and troubleshoot problems involving multiple user languages. Software that has been structured with multiple languages and data interlinking considerations early in its development is more likely to be easily maintained. We describe the process of adding multilingual support to the CAPO international Cohort study database using REDCap. Methods: Using Google Translate API we extend the supported Spanish language version of REDCap to the most recent version used by CAPO, 8.1.4. We then translate the English data dictionary for CAPO to Spanish and link the two projects together using REDCap’s hook feature. Results: The Community Acquired Pneumonia Organization database now supports data collection in Spanish for its international collaborators. REDCap’s program hook functionality facilitates both databases staying up to date. When a new case is added to the Spanish project, the case is also added to the English project and vice versa. Conclusions: We describe the implementation of multilingual functionality in a data repository for community-acquired pneumonia and describe how similar projects could be structured using REDCap as an example software environment

A Software Tool for Automated Upload of Large Clinical Datasets Using REDCap and the CAPO Database

Introduction: Obtaining clinical data from healthcare sources is necessary for conducting clinical research. New technologies now allow for connecting a research database to Electronic Medical Records remotely, allowing the automatic import of clinical research data. In this paper we design and evaluate a REDCap extension to import clinical records from an external health database. Methods: Many hospital EHRs are designed to use secure file transfer protocol (SFTP) repositories for data communication. We develop a REDCap plugin to connect to an external SFTP file repository for the import of clinical record data. We use the CAPO instance of REDCap and a sample set of clinical pneumonia variables for the connection. Results: The plugin allows the input of record data in a much shorter time than traditional data entry in addition to being less error prone. However, the formatting of the data in the SFTP file repository must be exact in order for the import to be successful. This can require setup time on the part of EHR IT staff. Conclusion: Developing a direct connection from EHR to research database can be an effective way to lower the overhead for conducting clinical research. We demonstrate a means to do this using REDCap and SFTP

Multistate Hepatitis A Outbreak: Vaccination of Food Service Workers as Part of the Kentucky Outbreak Response

Background: In August 2017, a local outbreak of Hepatitis A was identified among homeless individuals in Louisville, Kentucky. This marked the first cases in what has now become recognized as the largest Hepatitis A outbreak in the US. When infection was identified in a Food Service Worker (FSW), vaccination efforts were expanded to target this group. Objective: The purpose of this study was to describe: 1) the processes used to provide access to Hepatitis A vaccine for FSWs, 2) results from the immunization activities, and 3) lessons learned from the outcomes. Methods: Through a partnership between the Louisville Metro Department of Public Health and Wellness (LMDPHW) and the University of Louisville Division of Infectious Diseases, a novel approach to vaccination was implemented. Access to vaccine was provided via on-site immunization in 66 restaurants and subsequent availability in a pop-up vaccination clinic. Data were collected using the LMDPHW data collection form and included demographics, risk factors for Hepatitis A, and vaccine documentation. Results for those vaccinated March-December 2018 were analyzed using descriptive statistics. Results: On-site vaccination was provided to 1337 FSW at 66 restaurants during the seven (7) week period from March 28-May 15, 2018. This process involved a team of 42 including Advanced Practice Registered Nurses, Registered and Licensed Practical Nurses, Physicians, and UL team members. During the 35 weeks the walk-in clinic has been in operation (May 16-December 31, 2018), 3068 additional FSW were vaccinated for a total of 4405 FSWs vaccinated as part of the outbreak response. Critical partners included the Kentucky Restaurant Association and the Kentucky Nurses Association. Conclusions: This study demonstrated a successful model for vaccination of a novel population during an infectious disease outbreak and the importance of expanding partnership networks to ensure success. The outcomes emphasized the importance of the resources available in the academic community for reliable and consistent public health emergency response

Designing the Arriving Refugee Informatics Surveillance and Epidemiology (ARIVE) System: A Web-based Electronic Database for Epidemiological Surveillance

Objectives: We design and implement the Arriving Refugee Informatics surVeillance and Epidemiology (ARIVE) system to improve the health of refugees undergoing resettlement and enhance existing health surveillance networks. Materials and Methods: Using the REDCap electronic data capture software as a basis we create a refugee health database incorporating data from the Center for Disease Control and Prevention’s Electronic Disease Notification (EDN) system and domestic screening data from refugee health care providers. Results: Domestic screening and EDN refugee health data have been integrated for 13,824 refugees resettled from 35 different countries into the state of Kentucky from the years 2013-2016. Discussion: A flexible software solution like REDCap provides a way to implement the core of a health surveillance network in a way that is sustainable and cost-effective and REDCap’s data dictionary standard provides an easy way to share and improve the database structure of a health surveillance network

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (OR=1.11, P=5.7×10−15), which persisted after excluding loci implicated in previous studies (OR=1.07, P=1.7 ×10−6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 ×10−11) and neurobehavioral phenotypes in mouse (OR = 1.18, P= 7.3 ×10−5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by non-allelic homologous recombination

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

A. Palotie on työryhmän Schizophrenia Working Grp Psychiat jäsen.We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P = 1 x 10(-4)) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P = 8.4 x 10(-7)). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.Peer reviewe

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation. We also implicate fundamental processes related to neuronal function, including synaptic organization, differentiation and transmission. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurodevelopmental disorders. We identify biological processes relevant to schizophrenia pathophysiology; show convergence of common and rare variant associations in schizophrenia and neurodevelopmental disorders; and provide a resource of prioritized genes and variants to advance mechanistic studies

Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia

Schizophrenia has a heritability of 60–80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation. We also implicate fundamental processes related to neuronal function, including synaptic organization, differentiation and transmission. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurodevelopmental disorders. We identify biological processes relevant to schizophrenia pathophysiology; show convergence of common and rare variant associations in schizophrenia and neurodevelopmental disorders; and provide a resource of prioritized genes and variants to advance mechanistic studies