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[IMAGE: molecular integration of the analysis of the human genome and its expression].

We have developed an integrated approach for the analysis of human cDNA libraries from neuromuscular tissues, based on the acquisition of primary structural, expression and mapping data. 26,938 sequence signatures (over 7 million bases) have been derived from both ends of skeletal muscle and brain cDNA clones. Primary redundancy analysis and classification of database similarities made it possible to characterize by structural data about 8,000 human gene transcripts, the majority of which is catalogued for the first time. Collecting hybridization signatures of complex cDNA probes derived from the tissues of origin to cDNA clones arrayed on high density filters provided a global and quantifiable view of the complexity and level of expression of the different transcripts. The development of 2,792 eSTS markers amplifiable by PCR defined the chromosomal localization of some 2,500 genes corresponding to the transcripts sequenced. The data collected are part of the corpus of the human gene transcript catalog and the genic map of the human genome.

Brain Chemistry↗

DATA2000: CDC WONDER information system linking Healthy People 2000 objectives to data sets.

To monitor progress on the Healthy People (HP) 2000 objectives, planners and researchers will need information on relevant data sources. DATA2000 is a project designed to identify these data and link them with objectives and to develop a computerized information system providing access to this information. Sources of information on objectives and data included Healthy People 2000, catalogs and data bases of data sets, and the HP 2000 Steering Committee. We created an "assessment" of the utility of the data set for the particular objective. A Centers for Disease Control (CDC) WONDER-based information system was developed (using methods previously described). We identified 204 data sets and created 408 assessments. All but one of the objectives were paired with corresponding data. Over half the data come from CDC. The CDC WONDER-based information system crosslinks the objectives, data sets, and assessments and provides 5-10 pages of information about each. Understanding the contribution of prevention will be critical in planning reforms of the health care system. DATA2000 can be an important resource in this process.

Centers for Disease Control and Prevention, U.S.↗

[Facial nerve surgery with increasing innervation of correct target].

Aberrant regeneration of facial nerve has a higher propensity to innervate the wrong target. This study states that transection of these nonsomatic motor nerve will increase the innervation of correct target, which is cataloged as 'transection group', and preservation of nonsomatic motor nerve as 'untransection group'. According to the House grading system for reporting recovery of the facial nerve, in incomplete lesions (Bell's palsy, Hunt's syndrome, trauma etc) treated with nerve total or subtotal decompression (101 cases), transection group produced better voluntary functional movement (average grade 1.66 +/- 0.74) than untransection group (average grade 2.81 +/- 0.87). In complete lesions (trauma, tumor and chemical destruction etc) treated with nerve grafting (65 cases), transection group obtained better improvement (average grade 2.63 +/- 0.73) than untransection group (average grade 3.65 +/- 0.78).

Adolescent↗

Service providers and users discover the Internet.

Although the Internet has evolved over more than twenty years, resources useful to health information professionals have become available on the Internet only recently. A survey conducted by the Regional Medical Libraries of the National Network of Libraries of Medicine in the fall of 1993 indicates that libraries at academic institutions are much more likely to have access to the Internet (72%) than are libraries in hospital environments (24%). Health information professionals who take on the challenge and exploit the Internet's resources find rewards for themselves and their clients. The basic electronic mail capability of the Internet allows colleagues to collaborate, communicate, and participate in daily continuing education. Internet terminal and file-transfer capabilities provide improved access to traditional resources and first-time access to new electronic resources. Through the Internet, online catalogs are available worldwide, and document delivery is faster, cheaper, and more reliable than ever before. Institutions can make organizational, full-text, online, and publication information available through Internet tools such as direct file-transfer protocol (FTP), menu-based Gopher, and hypertext-based Mosaic. The National Library of Medicine (NLM) is among organizations finding new ways to provide service through the Internet. NLM now uses electronic mail to communicate with users, FTP service to distribute publications, and tools such as Gopher and Mosaic to distribute publications and graphics and connect users to online services. The Internet allows service providers and health sciences information professionals to work in a rich, new medium whose potential is just beginning to be explored. At the same time, its characteristics--including lack of formal organization, standards, quality control, and permanence--pose a challenge.

Computer Communication Networks↗

Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison.

Knowledge about cause, pathogenesis, and manifestations of hereditary metabolic diseases puts them among the best known of all human diseases. On the other hand, outcomes of treatment are cause for uncertainty and concern. In 1985, Hayes et al. analyzed efficacy of treatment up to 1983 in 65 of these diseases selected randomly from the McKusick catalogs. Disease scores were calculated for seven parameters: longevity; reproductive capability; somatic and cognitive development; and handicaps affecting schooling, work, and cosmetic appearance. Scores of the untreated and treated phenotypes were then compared. We have now measured progress over the past decade by calculating scores on the same 65 diseases from data in several hundred new reports published since 1983. All seven parameters in the 1993 survey reflect improved efficacy of treatment in the 10-year interval. However, the percent of diseases for which all manifestations of the disease were removed by treatment has not changed (12% in 1983; 12% in 1993). The group in which manifestations were untouched by treatment has become smaller (48% in 1983; 31% in 1993), and the group partially ameliorated by treatment had increased reciprocally (40% in 1983; 57% in 1993). Progress in the treatment of hereditary metabolic disease is thus better than it was, but it is still only a partial success. The advances are attributable to greater success with organ and tissue transplantation, better pharmacotherapy, and better support systems. Restoration of normal homeostasis, the key to successful treatment, remains an elusive challenge and is a logical, major focus for research in human genetics.

Data Collection↗

A profile of specific psychotherapeutic actions for borderline psychopathology. Psychotherapeutic psychoanalysis.

This article has attempted to catalog additions to the psychotherapeutic armamentarium in the treatment of borderline personality disorder based on their conceptual linkage with new paradigms derived from contemporary developments in psychoanalysis. These new therapeutic actions have broadened and increased our therapeutic skills and are now also viewed as essential for bringing about change in patients with severe developmental arrests. The term psychotherapeutic psychoanalysis is suggested to encompass this unique cluster of intrinsic and extrinsic treatment factors within the framework of psychoanalysis.

Borderline Personality Disorder↗

A historical perspective on specialty beds and other apparatus for treatment of invalids.

The bed environment and support surface have long been recognized as important in the care of the chronically ill. A review of specialty beds from the 19th and early 20th century was done from the collection of medical trade catalogs at the New York Academy of Medicine. It has been said "Past Is Prologue." Whether or not this is true, examination of selected examples of these historical beds can provide an unique and interesting perspective on contemporary practice.

Beds↗

The exclusion of pregnant, pregnable, and once-pregnable people (a.k.a. women) from biomedical research.

The barriers to women's participation as subjects in biomedical research are currently being challenged as a matter of legislative policy, medicine, and law. This Article catalogs the ways in which women have been disadvantaged by their exclusion and recent developments to redress them, and goes on to dissect the underlying rationales for excluding women from clinical trials. The author reveals the 'fundamental misconception' behind exclusionary rationales, and argues that research sponsors in fact have more to fear in the way of potential liability from the exclusion of women, even pregnant women and women of child-bearing capacity, than from their inclusion. Finally, the Article suggests strategies for achieving reform of these exclusionary practices.

Abnormalities, Drug-Induced↗

Bibliographic control of nonprint educational material.

AVLINE is an on-line data base maintained by the National Library of Medicine containing references to over 5,000 nationally available nonprint materials. Each title is screened for technical quality, processed according to NLM's categorization, and undergoes descriptive and subject cataloging. In addition to the bibliographic control, an assessment is made of educational potential and content validity by the peer appraisal process of the Association of American Medical Colleges (AAMC). AVLINE is available through the computer network that supports the MEDLINE system. The data base offers the use of a wide range of sophisticated retrieval possibilities.

Audiovisual Aids↗

The concept of race in Health Services Research: 1966 to 1990.

OBJECTIVE: This study examined ways in which race/ethnicity has been conceptualized and used in the health services research literature as published in Health Services Research (HSR). DATA SOURCE: All articles published in HSR from its inception in 1966 to 1990. STUDY DESIGN: The analyses were restricted to U.S.-based empirical research on humans or in which human population characteristics are described. This study identifies the terms used for race and/or ethnicity, the frequency with which they occur, and the purposes for which they are utilized. PRINCIPAL FINDINGS: The study documents that race/ethnicity is widely used in the health services literature to stratify or adjust results and to describe the sample or population of the study. Terms used for race are seldom defined and race is frequently employed in a routine and uncritical manner to represent ill-defined social and cultural factors. CONCLUSIONS: Researchers and practitioners must give more careful attention to the conceptualization and measurement of race. An understanding of racial/ethnic differences in patterns of health service utilization will require efforts to catalog and quantify the specific social and cultural factors that are differentially distributed by racial and ethnic status.

Ethnicity↗

Desiccated thyroid in a nutritional supplement.

Nutritional or vitamin supplements, which are largely unregulated by the Food and Drug Administration (FDA) and are sold in health food stores and through mail-order catalogs, may contain various combinations and doses of vitamins, minerals, herbs, chemicals, and animal tissues. Some of the products marketed as nutritional supplements contain desiccated porcine or bovine thyroid. A patient came to our family practice center with resting tachycardia, amenorrhea, and weight loss. She had been taking a nutritional supplement containing desiccated thyroid for 3 months. Laboratory studies confirmed the presence of hyperthyroidism. The daily recommended and consumed dose of the product she had been taking exceeded the normal replacement dose by two to three times. There is potential for harm in the unregulated availability and distribution of desiccated thyroid to the public.

Adult↗

Four novel PEPD alleles causing prolidase deficiency.

Mutations at the PEPD locus cause prolidase deficiency (McKusick 170100), a rare autosomal recessive disorder characterized by iminodipeptiduria, skin ulcers, mental retardation, and recurrent infections. Four PEPD mutations from five severely affected individuals were characterized by analysis of reverse-transcribed, PCR-amplified (RT-PCR) cDNA. We used SSCP analysis on four overlapping cDNA fragments covering the entire coding region of the PEPD gene and detected abnormal SSCP bands for the fragment spanning all or part of exons 13-15 in three of the probands. Direct sequencing of the mutant cDNAs showed a G-->A, 1342 substitution (G448R) in two patients and a 3-bp deletion (delta E452 or delta E453) in another. In the other two probands the amplified products were of reduced size. Direct sequencing of these mutant cDNAs revealed a deletion of exon 5 in one patient and of exon 7 in the other. Intronic sequences flanking exons 5 and 7 were identified using inverse PCR followed by direct sequencing. Conventional PCR and direct sequencing then established the intron-exon borders of the mutant genomic DNA revealing two splice acceptor mutations: a G-->C substitution at position -1 of intron 4 and an A-->G substitution at position -2 of intron 6. Our results indicate that the severe form of prolidase deficiency is caused by multiple PEPD alleles. In this report we attempt to begin the process of describing these alleles and cataloging their phenotypic expression.

Alleles↗

Effective strategies and programs to increase minority participation in the health professions for the 21st century.

Efforts in the 1960s and early 1970s aggressively met the national health care challenge to increase minority enrollment in health professions schools. These efforts resulted from an academic and community-based collaboration supported by public and private funding. This review was undertaken to inventory the strategies and programs of that period and to highlight effective strategies. A literature review of minority program studies was conducted to catalog specific strategies and programmatic activities. Criteria used to evaluate effectiveness were also assessed. Publication of any studies and evaluations of these programs are limited; longitudinal studies are scarce. Evaluative criteria of that time combined quantitative and qualitative measures that were not applied uniformly and consistently. The inventory of programmatic activity ranged from career awareness days to establishment of health career "magnet" schools. The review found that three strategies--awareness development, enrichment/reinforcement, and prematriculation--were effectively applied in programs across all areas of the health professions studied, that is, MODVOPP (medicine, optometry, dentistry, veterinary science, osteopathy, podiatry, and pharmacy), nursing, and allied health. Today these strategies continue to be effectively applied, but the hostile social climate and dwindling funding threaten the progress made. Revitalization of past efforts is imperative.

Education↗

A Century of Biomedical Science at Johns Hopkins: an interview with Dr. A. McGehee Harvey about this historic publication. Interview by Victor R. Hrehorovich and Kelly White.

Research achievements at the Johns Hopkins School of Medicine over the past century are too numerous to document in anything but a catalog. But a group of Hopkins physicians and researchers compiled a representative sample of papers documenting the intellectual history of the institution, reproducing them in a two-volume text. A discussion with one of the editors, A. McGehee Harvey, M.D., offers some insight into the process of selecting papers to be included in this historic publication.

Baltimore↗

The GDB Human Genome Data Base: a source of integrated genetic mapping and disease data.

The GDB Human Genome Data Base refers collectively to GDB and OMIM, Online Mendelian Inheritance in Man. GDB and OMIM are linked databases that provide an international repository for information generated by the Human Genome Initiative. GDB contains human gene mapping data, while OMIM offers the text of Dr. Victor A. McKusick's catalog of genetic disease and phenotype descriptions. These databases, updated and edited continuously, integrate bibliographic and full-text information with several types of mapping data. They are accessible through a flexible interface and are available through SprintNet and the Internet to the scientific community without cost. This paper provides an overview of the context, development, structure, content, and use of these databases.

Chromosome Mapping↗

Toward a nosology of human aggressive behavior.

General attempts have been made to catalog or categorize research literature on aggressive behavior. In the animal literature this category has been delineated by clearly observed and described patterns of behavior. These include offensive and defensive expressions in animals and the characterization of attack behaviors by typography into defensive and offensive. The human literature is considerably deficient in the description and categorization of human aggressive behavior. Current nosologies offer no utilitarian schema for characterizing violent behavior in clinical populations regarding the typography of the violence, its prediction, or guidance as to its treatment. The generation of databased nosologies may provide a mechanism for the development of research and clinically relevant nosologies based upon cluster analyses of treatment outcomes and behavioral characteristics. This strategy may provide a more effective approach for further research concerning clinical aggressive or destructive behaviors.

Aggression↗

[The colors produced by Fusarium Link ex Fr. 1821 (Deuteromycetes) species in various carbohydrate cultures. I. Fusarium equiseti (Corda) Sacc. 1886].

In this study, Fusarium equiseti (Corda) Sacc. 1886 fungus was inoculated in cultures containing glucose, maltose, galactose, mannitol, sucrose, fructose, lactose and starch and control media cultures and were observed at intervals of five days. In most of the cultures various tones of brown were observed. Our results showed a correlation when compared with literature in general no different results were observed. Three color catalogs were used for the identification of these colors.

Carbohydrate Metabolism↗

Orienting head movements resulting from electrical microstimulation of the brainstem tegmentum in the barn owl.

The size and direction of orienting movements are represented systematically as a motor map in the optic tectum of the barn owl (du Lac and Knudsen, 1990). The optic tectum projects to several distinct regions in the medial brainstem tegmentum, which in turn project to the spinal cord (Masino and Knudsen, 1992). This study explores the hypothesis that a fundamental transformation in the neural representation of orienting movements takes place in the brainstem tegmentum. Head movements evoked by electrical microstimulation in the brainstem tegmentum of the alert barn owl were cataloged and the sites of stimulation were reconstructed histologically. Movements elicited from the brainstem tegmentum were categorized into one of six different classes: saccadic head rotations, head translations, facial movements, vocalizations, limb movements, and twitches. Saccadic head rotations could be further subdivided into two general categories: fixed-direction saccades and goal-directed saccades. Fixed-direction saccades, those whose direction was independent of initial head position, were elicited from the midbrain tegmentum. Goal-directed saccades, those whose direction changed with initial head position, were elicited from the central rhombencephalic reticular formation and from the efferent pathway of the cerebellum. Particular attention was paid to sites from which fixed-direction saccadic movements were elicited, as these movements appeared to represent components of orienting movements. Microstimulation in the medial midbrain tegmentum elicited fixed-direction saccades in one of six directions: rightward, leftward, upward, downward, clockwise roll, and counterclockwise roll. Stimulation in and around the interstitial nucleus of Cajal (InC; a complete list of anatomical abbreviations is given in the Appendix) produced ipsiversive horizontal saccades. Stimulation in the ventral InC and near the dorsal and medial edges of the red nucleus produced upward saccades. Stimulation in the reticular formation near the lateral edge of the red nucleus produced downward saccades. Stimulation in the ventromedial central gray produced ipsiversive roll saccades. The metrics and kinetics of fixed-direction saccades, but not their directions, could be influenced by stimulation parameters. As such, direction was an invariant property of the circuits being activated, whereas movement latency, duration, velocity, and size each demonstrated dependencies on stimulus amplitude, frequency, and duration. The data demonstrate directly that at the level of the midbrain tegmentum there exists a three-dimensional Cartesian representation of head-orienting movements such that horizontal, vertical, and roll components of movement are encoded by anatomically distinct neural circuits.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗