Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings.

Siblings of individuals with disabilities hold a pivotal and sometimes unappreciated position in the lives of their brother or sister. We sought to understand the unique challenges and opportunities in relationships between children with chromosome 18 conditions and their siblings and to identify the ways to support this relationship. Participants were recruited through the lay advocacy organization, the Chromosome 18 Registry & Research Society. Fifty-seven siblings from 36 families participated, using an investigator designed instrument, were asked to agree or disagreed with statements from four content areas (information and knowledge about the syndrome, feelings about the sibling relationship, involvement with and caregiving for their sibling, and support and advocacy). Siblings reported that they know their sibling with a disability very well and reported a wide range of emotions regarding their sibling. There was a strong sense of pride in their brother/sister's abilities, and many participants reported attempts to help others understand their brother/sister. Many siblings reported a dislike for the common assumption that their affected sibling is a burden on the family. Most participants reported feeling some degree of responsibility for their affected sibling, but many also reported that they enjoy this role. Sixty-three parents from 36 families responded to the survey. Most parents felt their typically developing children enjoyed teaching new things to their affected child as well as being a good role model for them. Most parents also felt their typically developing child was comfortable telling others about their sibling's condition. Recommendations for interventions and future research are discussed.

A two-tiered curriculum to improve data management practices for researchers.

BACKGROUND: Better research data management (RDM) provides the means to analyze data in new ways, effectively build on another researcher's results, and reproduce the results of an experiment. Librarians are recognized by many as a potential resource for assisting researchers in this area, however this potential has not been fully realized in the biomedical research community. While librarians possess the broad skill set needed to support RDM, they often lack specific knowledge and time to develop an appropriate curriculum for their research community. The goal of this project was to develop and pilot educational modules for librarians to learn RDM and a curriculum for them to subsequently use to train their own research communities. MATERIALS AND METHODS: We created online modules for librarians that address RDM best practices, resources and regulations, as well as the culture and practice of biomedical research. Data was collected from librarians through questions embedded in the online modules on their self-reported changes in understanding of and comfort level with RDM using a retrospective pre-post design. We also developed a Teaching Toolkit which consists of slides, a script, and an evaluation form for librarians to use to teach an introductory RDM class to researchers at their own institutions. Researchers' satisfaction with the class and intent to use the material they had learned was collected. Actual changes in RDM practices by researchers who attended was assessed with a follow-up survey administered seven months after the class. RESULTS AND DISCUSSION: The online curriculum increased librarians' self-reported understanding of and comfort level with RDM. The Teaching Toolkit, when employed by librarians to teach researchers in person, resulted in improved RDM practices. This two-tiered curriculum provides concise training and a ready-made curriculum that allows working librarians to quickly gain an understanding of RDM, and translate this knowledge to researchers through training at their own institutions.

Lithium rechallenge after renal transplant.

Mrs B is a 65-year-old, married, white woman with long-standing history of bipolar disorder type I who achieved mood stability with chronic lithium treatment. She developed end-stage renal disease, which was suspected to be the result of chronic lithium exposure in the context of medical comorbidity, and subsequently required renal transplantation. Following transplantation and discontinuation of lithium, Mrs B was unable to achieve mood stability with multiple medication trials and required more than 40 medical and psychiatric hospitalizations with eventual transition to skilled nursing care. After much discussion among the psychiatric treatment team, the patient, and her husband, primary care provider, nephrologist, and renal transplant surgeon, the decision was made to restart the patient on lithium given her previous treatment success. The purpose of this case report is to discuss the use of lithium following renal transplantation. In this case, a multidisciplinary approach was used to assist the patient in carefully weighing the risks and benefits of her treatment decisions. The consensus of the patient, her husband, and her providers was that the benefit of mood stabilization outweighed the potential risks of renal toxicity. Although treatment with lithium after renal transplant is not a first-line treatment option, this case illustrates that lithium could be considered in certain cases.

Starting the data conversation: informing data services at an academic health sciences library.

OBJECTIVE: The research obtained information to plan data-related products and services. METHODS: Biomedical researchers in an academic medical center were selected using purposive sampling and interviewed using open-ended questions based on a literature review. Interviews were conducted until saturation was achieved. RESULTS: Interview responses informed library planners about researchers' key data issues. CONCLUSIONS: This approach proved valuable for planning data management products and services and raising library visibility among clients in the research data realm.

Developing syndrome definitions based on consensus and current use.

OBJECTIVE: Standardized surveillance syndromes do not exist but would facilitate sharing data among surveillance systems and comparing the accuracy of existing systems. The objective of this study was to create reference syndrome definitions from a consensus of investigators who currently have or are building syndromic surveillance systems. DESIGN: Clinical condition-syndrome pairs were catalogued for 10 surveillance systems across the United States and the representatives of these systems were brought together for a workshop to discuss consensus syndrome definitions. RESULTS: Consensus syndrome definitions were generated for the four syndromes monitored by the majority of the 10 participating surveillance systems: Respiratory, gastrointestinal, constitutional, and influenza-like illness (ILI). An important element in coming to consensus quickly was the development of a sensitive and specific definition for respiratory and gastrointestinal syndromes. After the workshop, the definitions were refined and supplemented with keywords and regular expressions, the keywords were mapped to standard vocabularies, and a web ontology language (OWL) ontology was created. LIMITATIONS: The consensus definitions have not yet been validated through implementation. CONCLUSION: The consensus definitions provide an explicit description of the current state-of-the-art syndromes used in automated surveillance, which can subsequently be systematically evaluated against real data to improve the definitions. The method for creating consensus definitions could be applied to other domains that have diverse existing definitions.

Nano Mapper: an Internet knowledge mapping system for nanotechnology development.

Nanotechnology research has experienced rapid growth in recent years. Advances in information technology enable efficient investigation of publications, their contents, and relationships for large sets of nanotechnology-related documents in order to assess the status of the field. This paper presents the development of a new knowledge mapping system, called Nano Mapper (http://nanomapper.eller.arizona.edu), which integrates the analysis of nanotechnology patents and research grants into a Web-based platform. The Nano Mapper system currently contains nanotechnology-related patents for 1976-2006 from the United States Patent and Trademark Office (USPTO), European Patent Office (EPO), and Japan Patent Office (JPO), as well as grant documents from the U.S. National Science Foundation (NSF) for the same time period. The system provides complex search functionalities, and makes available a set of analysis and visualization tools (statistics, trend graphs, citation networks, and content maps) that can be applied to different levels of analytical units (countries, institutions, technical fields) and for different time intervals. The paper shows important nanotechnology patenting activities at USPTO for 2005-2006 identified through the Nano Mapper system.

Trends for nanotechnology development in China, Russia, and India.

China, Russia, and India are playing an increasingly important role in global nanotechnology research and development (R&D). This paper comparatively inspects the paper and patent publications by these three countries in the Thomson Science Citation Index Expanded (SCI) database and United States Patent and Trademark Office (USPTO) database (1976-2007). Bibliographic, content map, and citation network analyses are used to evaluate country productivity, dominant research topics, and knowledge diffusion patterns. Significant and consistent growth in nanotechnology papers are noted in the three countries. Between 2000 and 2007, the average annual growth rate was 31.43% in China, 11.88% in Russia, and 33.51% in India. During the same time, the growth patterns were less consistent in patent publications: the corresponding average rates are 31.13, 10.41, and 5.96%. The three countries' paper impact measured by the average number of citations has been lower than the world average. However, from 2000 to 2007, it experienced rapid increases of about 12.8 times in China, 8 times in India, and 1.6 times in Russia. The Chinese Academy of Sciences (CAS), the Russian Academy of Sciences (RAS), and the Indian Institutes of Technology (IIT) were the most productive institutions in paper publication, with 12,334, 6,773, and 1,831 papers, respectively. The three countries emphasized some common research topics such as "Quantum dots," "Carbon nanotubes," "Atomic force microscopy," and "Scanning electron microscopy," while Russia and India reported more research on nano-devices as compared with China. CAS, RAS, and IIT played key roles in the respective domestic knowledge diffusion.

System for infectious disease information sharing and analysis: design and evaluation.

Motivated by the importance of infectious disease informatics (IDI) and the challenges to IDI system development and data sharing, we design and implement BioPortal, a Web-based IDI system that integrates cross-jurisdictional data to support information sharing, analysis, and visualization in public health. In this paper, we discuss general challenges in IDI, describe BioPortal's architecture and functionalities, and highlight encouraging evaluation results obtained from a controlled experiment that focused on analysis accuracy, task performance efficiency, user information satisfaction, system usability, usefulness, and ease of use.