Denise Shereff

Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective

This study determines the impact of symptoms associated with Charcot-Marie-Tooth disease on quality-of-life. Charcot-Marie-Tooth patients in the Inherited Neuropathies Consortium Rare Diseases Clinical Research Network Contact Registry were surveyed. The survey inquired about 214 symptoms and 20 themes previously identified as important to Charcot-Marie-Tooth patients through patient interviews. Symptom population impact was calculated as the prevalence multiplied by the relative importance of each symptom identified. Prevalence and symptom impact were analyzed by age, symptom duration, gender, Charcot-Marie-Tooth type, and employment status. 407 participants returned the survey, identifying foot and ankle weakness (99.7%) and impaired balance (98.6%) as the most prevalent themes. Foot and ankle weakness and limitations with mobility were the themes with the highest impact. Both symptom prevalence and impact gradually increased with age and symptom duration. Several themes were more prevalent in women with Charcot-Marie-Tooth, including activity limitations, pain, fatigue, hip-thigh weakness, and gastrointestinal issues. All of the themes, except emotional or body image issues, were more prevalent among unemployed individuals. There were minimal differences in symptom prevalence between Charcot-Marie-Tooth types. There are multiple symptoms that impact Charcot-Marie-Tooth quality-of-life in adults. These symptoms have different levels of importance, are readily recognized by patients, and represent critical areas of Charcot-Marie-Tooth health.

Illness Perceptions and Fatigue in Systemic Vasculitis

To compare illness perceptions among patients with different forms of vasculitis, identify risk factors for negative illness perceptions, and determine the association between illness perceptions and fatigue.

[RD] PRISM Library: Patient Registry Item Specifications and Metadata for Rare Diseases

Patient registries are important for understanding the causes and origins of rare diseases and estimating their impact; and they may prove critical to the development of new diagnostics and therapeutics. This paper introduces the [RD] PRISM resource (http://rdprism.org), a project funded by the National Institutes of Health to develop a library of standardized question-and-answer sets to support rare disease research. The paper presents a project case-driven plan for creating a new registry using questions from an existing related registry, revising and expanding an existing registry, and showing interoperability of data collected from different registries and data sources. Each of the use cases involves the retrieval of indexed questions for reuse. Successful retrieval of questions can facilitate their reuse in registries, meaning new registries can be implemented more quickly, and the use of “standard” questions can be facilitated. The paper further discusses issues involved in encoding the sets with relevant data standards for interoperability and indexing encoded sets with metadata for optimal retrievability.

Electronic Books for Biomedical Information

Electronic books and other content have increased in popularity in recent years, partially due to releases of user-friendly electronic readers. Biomedical content lends itself especially well to electronic format. This article will review NetLibrary® and Thieme E-Book Library, two electronic content providers, for their search interface, electronic content usability, and biomedical content.

The use of SNOMED CT to support retrieval and re-use of Question and Answer Sets for patient registries

Patient registries are a valuable research tool for understanding disease and can support new therapies. Diverse registry models, sponsors, and data requirements complicate efforts for the standardisation of registry Questions And Answer Sets (QAS). Bottom-up standardisation can be achieved by facilitating the re-use of existing questions through the use of searchable metadata coded using controlled terminologies. This paper describes the Patient Registry Item Specifications and Metadata for Rare Diseases (PRISM) library of registry questions representing a variety of rare diseases. PRISM uses the Dublin Core (DC) and the Systematised Nomenclature of Medicine Clinical Terms (SNOMED CT).

Every Reader Her Book: Creation of a Therapeutic Library at a Women’s Residential Treatment Facility

In July 2015, an interdisciplinary team of librarians, information professionals, and education specialists began development of a therapeutic library for the women residents of the Drug Abuse Comprehensive Coordinating Office, Inc. (DACCO) in Tampa, Florida. This 88-bed alcohol and other drug (AOD) addiction treatment center’s mission is to provide counseling for substance abuse and co-occurring mental health conditions. Treatment lasts from 6 to 8 months. The residential population is racially, ethnically, and socio-economically diverse, with many residents referred through the criminal justice system with the stipulation that they cannot leave the treatment center without prior court approval. Prior to the establishment of this library, residents did not have access to the Internet or reading materials. With funding from a grant from the Library Services and Technology Act (LSTA), the team began to design a therapeutic library for the women residents. The DACCO library now offers services to the center and its residents that focus on providing therapeutic outcomes consistent with their treatment goals. Service promises include circulation, reference services, and health literacy instruction. This article discusses the creation of a model therapeutic library and the future of providing services to special populations who reside in a restricted environment with little or no access to Web-based resources.

Standardization of Questions in Rare Disease Registries: The PRISM Library Project

Background Patient registries are often a helpful first step in estimating the impact and understanding the etiology of rare diseases - both requisites for the development of new diagnostics and therapeutics. The value and utility of patient registries rely on the use of both well-constructed structured research questions and relevant answer sets accompanying them. There are currently no clear standards or specifications for developing registry questions, and there are no banks of existing questions to support registry developers. Objective This paper introduces the [Rare Disease] PRISM (Patient Registry Item Specifications and Metadata for Rare Disease) project, a library of standardized questions covering a broad spectrum of rare diseases that can be used to support the development of new registries, including Internet-based registries. Methods A convenience sample of questions was identified from well-established (>5 years) natural history studies in various diseases and from several existing registries. Face validity of the questions was determined by review by many experts (both terminology experts at the College of American Pathologists (CAP) and research and informatics experts at the University of South Florida (USF)) for commonality, clarity, and organization. Questions were re-worded slightly, as needed, to make the full semantics of the question clear and to make the questions generalizable to multiple diseases where possible. Questions were indexed with metadata (structured and descriptive information) using a standard metadata framework to record such information as context, format, question asker and responder, and data standards information. Results At present, PRISM contains over 2,200 questions, with content of PRISM relevant to virtually all rare diseases. While the inclusion of disease-specific questions for thousands of rare disease organizations seeking to develop registries would present a challenge for traditional standards development organizations, the PRISM library could serve as a platform to liaison between rare disease communities and existing standardized controlled terminologies, item banks, and coding systems. Conclusions If widely used, PRISM will enable the re-use of questions across registries, reduce variation in registry data collection, and facilitate a bottom-up standardization of patient registries. Although it was initially developed to fulfill an urgent need in the rare disease community for shared resources, the PRISM library of patient-directed registry questions can be a valuable resource for registries in any disease – whether common or rare. Trial Registration N/A

Promoting the use of standard questions in patient registries and research: A library of questions related to rare diseases

The Patient Registry Item Specifications and Metadata (PRISM) library was developed with funds from the American Recovery and Reinvestment Act (ARRA) with the primary purpose of supporting the use of standardized questions in rare disease patient registries. A patient registry is for a method of collecting, storing, retrieving and using a clearly defined set of data on identifiable individuals for a specified purpose. Standardization of patient registries can enable the sharing of health and patient data for optimal research capabilities. As the number of patient registries proliferates, there exists no single entity to drive the development of data collection, storage and retrieval standards. The PRISM library fills that void. Additionally, the PRISM library supports a bottom-up approach to standardization, and utilizes Dublin Core for indexing and, partnering with the College of American Pathologists, uses SNOMED CT to code clinical content. PRISM also supports apomediation, as well as the re-use of questions to promote standardization. The goal of PRISM is to reduce variation in registry questions used by the rare disease registry community and to support production of high quality, highly efficient patient registries. The standardization of patient registry questions can further serve to improve efficiencies and collaboration across the research and drug development communities.

Consumer Health Complete: A Review

EBSCOs Consumer Health Complete™ is a database of health information resources for consumers. It provides access to reputable, high-quality resources targeted to patients and their families. The database enables users to browse content in multiple ways and offers support for terminology that may be unfamiliar to them. Consumer Health Complete is a valuable resource for librarians or health educators to use with patients.

Diabetes UK: (http://www.diabetes.org.uk/).

Diabetes UK is the operating name of the British Diabetic Association, the largest organization in the UK working for people with diabetes. The goals of the organization are funding research, advocacy, and helping people live with diabetes. The Diabetes UK Web site helps health consumers find authoritative, reliable information about the condition, the organization, research efforts, and opportunities for getting involved. Highlights include the Guide to Diabetes, with information about living with and managing the condition, and opportunities to connect with and learn about others affected by the condition.