Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism.

Biochemical signs and severity of symptoms of primary hyperparathyroidism (pHPT) differ among patients, and little is known of any coupling of clinical characteristics of nonfamilial pHPT to genetic abnormalities in the parathyroid tumors. Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. Using microsatellite analysis for loss of heterozygosity (LOH) at 11q13 and DNA sequencing of coding exons, the MEN1 gene was studied in 49 parathyroid lesions of patients with divergent symptoms, operative findings, histopathological diagnosis, and biochemical signs of nonfamilial pHPT.

Mutation of the multiple endocrine neoplasia type 1 gene in nonfamilial, malignant tumors of the endocrine pancreas.

Endocrine pancreatic tumors are rare neoplasms that occur sporadically or as part of a multiple endocrine neoplasia type 1 (MEN1) syndrome. Germ-line mutations of the MEN1 gene, located at 11q13, have been demonstrated in MEN1 kindreds, and loss of heterozygosity (LOH) on 11q13 together with somatic MEN1 mutations have been detected in 20% of nonfamilial parathyroid tumors. Here, we examine 11 non-MEN1 malignant tumors of the endocrine pancreas, 9 nonfunctioning tumors, and 2 glucagonomas.

The Unified Medical Language System: an informatics research collaboration.

In 1986, the National Library of Medicine (NLM) assembled a large multidisciplinary, multisite team to work on the Unified Medical Language System (UMLS), a collaborative research project aimed at reducing fundamental barriers to the application of computers to medicine. Beyond its tangible products, the UMLS Knowledge Sources, and its influence on the field of informatics, the UMLS project is an interesting case study in collaborative research and development. It illustrates the strengths and challenges of substantive collaboration among widely distributed research groups.

A deep water patellogastropod from oligocene water-logged wood of Washington State, USA (Acmaeoidea: Pectinodonta).

Late Oligocene concretions from the shores of the Strait of Juan de Fuca, Washington State, USA contain limpets that represent the earliest record of the taxon Pectinodonta. Assignment of these specimens to this taxon is based on scanning electron microscopy of shell microstructure and their intimate association with fossil wood. Shell microstructures in the Pectinodonta consist of an outer calcitic homogeneous/simple prismatic layer followed by a calcitic foliated layer, an aragonitic comarginal crossed lamellar layer, myostracum, and an aragonitic cone complex crossed lamellar layer.

The modern library: lost and found.

The modern library, a term that was heard frequently in the mid-twentieth century, has fallen into disuse. The over-promotion of computers and all that their enthusiasts promised probably hastened its demise. Today, networking is transforming how libraries provide--and users seek--information.

Computers in medicine.

A growing group of institutions and individuals use Internet connections to reach information sources. Large health care organizations now see electronic records as essential to providing cost-effective health care. The Visible Human Project represents the entire three-dimensional anatomy of a cadaver.

The High-Performance Computing and Communications program, the national information infrastructure and health care.

The High-Performance Computing and Communications (HPCC) program is a multiagency federal effort to advance the state of computing and communications and to provide the technologic platform on which the National Information Infrastructure (NII) can be built. The HPCC program supports the development of high-speed computers, high-speed telecommunications, related software and algorithms, education and training, and information infrastructure technology and applications. The vision of the NII is to extend access to high-performance computing and communications to virtually every U.

Telemedicine protocols and standards: development and implementation.

Telemedicine is likely to adopt rather than create most of its protocols and standards as it becomes an integral part of medical practice. To optimize this process, it will be necessary to understand how to use existing protocols and standards, and influence the development, evaluation, and modification of new ones. We have identified key participants in standards setting activities under the titles of international government, United States government, professional certifying organizations, and independent institutes.

HPCC and the National Information Infrastructure: an overview.

The National Information Infrastructure (NII) or "information superhighway" is a high-priority federal initiative to combine communications networks, computers, databases, and consumer electronics to deliver information services to all U.S. citizens.

Global information infrastructure.

The High Performance Computing and Communications Program (HPCC) is a multiagency federal initiative under the leadership of the White House Office of Science and Technology Policy, established by the High Performance Computing Act of 1991. It has been assigned a critical role in supporting the international collaboration essential to science and to health care. Goals of the HPCC are to extend USA leadership in high performance computing and networking technologies; to improve technology transfer for economic competitiveness, education, and national security; and to provide a key part of the foundation for the National Information Infrastructure.

The Unified Medical Language System.

In 1986, the National Library of Medicine began a long-term research and development project to build the Unified Medical Language System (UMLS). The purpose of the UMLS is to improve the ability of computer programs to "understand" the biomedical meaning in user inquiries and to use this understanding to retrieve and integrate relevant machine-readable information for users. Underlying the UMLS effort is the assumption that timely access to accurate and up-to-date information will improve decision making and ultimately the quality of patient care and research.

Use of MEDLINE by physicians for clinical problem solving.

Objective: To understand the ways in which computer-mediated searching of the biomedical literature affects patient care and other professional activities. Undertaken to determine the ways in which on-line access to the biomedical literature via the National Library of Medicine's MEDLINE database "makes a difference" in what physicians do when confronted with a medical problem requiring new or additional information.

Design: An adaptation of the Critical Incident Technique used to gather detailed reports of MEDLINE search results that were especially helpful (or not helpful) in carrying out the individual's professional activities.

The UMLS project: making the conceptual connection between users and the information they need.

Conceptual connections between users and information sources depend on an accurate representation of the content of available information sources, an accurate representation of specific user information needs, and the ability to match the two. Establishing such connections is a principal function of medical librarians. The goal of the National Library of Medicine's Unified Medical Language System (UMLS) project is to facilitate the development of conceptual connections between users and relevant machine-readable information.

The Unified Medical Language System.

In 1986, the National Library of Medicine began a long-term research and development project to build the Unified Medical Language System® (UMLS®). The purpose of the UMLS is to improve the ability of computer programs to "understand" the biomedical meaning in user inquiries and to use this understanding to retrieve and integrate relevant machine-readable information for users. Underlying the UMLS effort is the assumption that timely access to accurate and up-to-date information will improve decision making and ultimately the quality of patient care and research.