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At least 631 records · Page 35Linked to original sources

Report from a U.S. conference on essential tremor.

Seventy researchers met in Washington, DC, on 20-21 October 2005 to identify and discuss the most pressing research issues in essential tremor (ET). The conference attendees concluded that the following six objectives are of immediate and overriding importance: (1) a collaborative network of research centers; (2) an international committee for developing a standard protocol for the diagnosis and quantification of ET; (3) the identification of one or more genes for ET; (4) a centralized repository of DNA and, ideally, immortalized cell lines from well-characterized ET families and healthy controls; (5) a reliable and efficient repository of optimally prepared and categorized brain samples for hypothesis-driven neuropathological examinations in well-characterized ET patients; and (6) animal models of ET for screening promising drugs. The conference attendees hope that this statement from the United States will engender international collaboration in finding a cure for ET.

Congresses as Topic↗

Integrating Biobanking Into Conservation Practice: The Development and Impact of the EAZA Biobank.

Zoological biobanks are becoming essential tools in conservation, offering a means to preserve genetic material and support in situ population management amid accelerating biodiversity loss. With rapid advances in genomics, cryopreservation, and assisted reproduction technologies, biobanks enable a proactive approach to providing insurance against genetic erosion and facilitating future research, supplementation, and genetic rescue. However, to be effective, zoological biobanks must be purposefully designed, strategically integrated into conservation frameworks such as the Convention on Biological Diversity (CBD) Kunming-Montreal Global Biodiversity Framework (KMGBF), and regularly evaluated for coverage and impact. Using the EAZA Biobank as an example, we outline the structure, development, and collaborative foundations that have enabled its rapid growth, built on community support and conservation impact. Leveraging EAZA's institutional network and data-sharing platforms such as ZIMS, the Biobank employs a decentralized, four-hub model of zoological institutions storing samples. A gap analysis, integrating threat status, breeding programs, genomic data repositories, and phylogenetic diversity, highlights current sampling strengths and deficiencies and guides future collection priorities. The integration of specimen-specific genomic data and the EAZA Biobank Cryonetwork of institutions with expertise in storing and generating gametes and cell lines will expand the Biobank's role in population management and conservation. Zoological biobanks must now evolve alongside advances in biotechnology and genomics. Sample collection strategies should serve conservation needs and anticipate future applications in genomics, cryobiology, and conservation medicine, linking biospecimens with the wealth of data generated from them. This approach should be scalable beyond EAZA, forming the foundation of a global standardized biobanking framework. Ultimately, zoological biobanks are not merely repositories of the past-they are essential infrastructures shaping the future potential of species conservation.

EAZA↗

Regional mapping panels for chromosomes 3, 4, 5, 11, 15, 17, 18, and X.

The NIGMS Human Genetic Mutant Cell Repository collects and distributes well-characterized human/rodent somatic cell hybrid regional mapping panels for human chromosomes 3, 4, 5, 11, 15, 17, 18, and X. Each regional mapping panel consists of 4 to 11 hybrids that divide the chromosome into 5 to 11 intervals. These panels have been extensively characterized by the submitters and the NIGMS Repository.

Animals↗

Selective automated indexing of findings and diagnoses in radiology reports.

The recent improvements in capabilities of desktop computers and communications networks give impetus for the development of clinical image repositories that can be used for patient care and medical education. A challenge in the use of these systems is the accurate indexing of images for retrieval performance acceptable to users. This paper describes a series of experiments aiming to adapt the SAPHIRE system, which matches text to concepts in the UMLS Metathesaurus, for the automated indexing of image reports. A series of enhancements to the baseline system resulted in a recall of 63% but a precision of only 30% in detecting concepts. At this level of performance, such a system might be problematic for users in a purely automated indexing environment. However, if the ability to retrieve images in repositories based on content in their reports is desired by clinical users, and no other current systems offer this functionality, then follow-up research questions include whether these imperfect results would be useful in a completely or partially automated indexing environment and/or whether other approaches can improve upon them.

Abstracting and Indexing↗

Radiology considerations for the PREMIUM study: a multicenter randomized controlled trial of abbreviated MRI versus ultrasound for liver cancer screening in cirrhosis.

This paper describes the rationale and radiology considerations in the implementation of the Preventing Liver Cancer Mortality through Imaging with Ultrasound versus MRI (PREMIUM) study. PREMIUM is a multicenter, randomized controlled trial sponsored by the Department of Veterans Affairs comparing dynamic contrast-enhanced (DCE) abbreviated MRI (aMRI) plus serum AFP versus ultrasound (US) plus serum AFP for hepatocellular carcinoma (HCC) screening in patients with cirrhosis. PREMIUM aims to randomize 4,700 participants across over 47 Veterans Affairs Medical Centers to semiannual surveillance for up to eight years, with HCC-related mortality as the primary endpoint. To date, 35 sites have been activated with 1,085 patients randomized. To ensure uniform implementation and reporting of per-protocol screening, the PREMIUM Radiology Workgroup developed standardized imaging protocols, structured LI-RADS-based reporting templates, and a centralized training program for radiologists and technologists. They also perform ongoing quality control on both scans and reports. The aMRI protocols utilize multiphasic post-contrast imaging to allow LI-RADS scoring. A non-contrast-enhanced aMRI protocol is available for participants who develop renal impairment or contrast allergy during the study. US protocols conform to US LI-RADS standards. Structured reporting promotes consistency in documentation of findings, visualization scores, and follow-up recommendations. A centralized Image Repository was established, incorporating advanced de-identification methods to remove metadata and pixel-embedded protected health information from imaging files. More than 20,000 curated liver MRI and US exams are anticipated, supporting both trial outcomes and future radiomics and artificial intelligence research. PREMIUM aims to determine whether screening for HCC with a DCE aMRI protocol reduces HCC-related mortality and also facilitates ancillary studies utilizing the Image Repository.

Abbreviated MRI↗

Three-dimensional computerised atlas of the rat brain stem precerebellar system: approaches for mapping, visualization, and comparison of spatial distribution data.

Comparisons of microscopical neuroanatomic data from different experiments and investigators are typically hampered by the use of different section planes and dissimilar techniques for data documentation. We have developed a framework for visualization and comparison of section-based, spatial distribution data, in brain stem nuclei. This framework provides opportunities for harmonized data presentation in neuroinformatics databases. Three-dimensional computerized reconstructions of the rat brain stem and precerebellar nuclei served as a basis for establishing internal coordinate systems for the pontine nuclei and the precerebellar divisions of the sensory trigeminal nuclei. Coordinate based diagrams were used for presentation of experimental data (spatial distribution of labelled neurons and axonal plexuses) from standard angles of view. Each nuclear coordinate system was based on a cuboid bounding box with a defined orientation. The bounding box was size-adjusted to touch cyto- and myeloarchitectonically defined boundaries of the individual nuclei, or easily identifiable nearby landmarks. We exemplify the use of these internal coordinate systems with dual retrograde neural tracing data from pontocerebellar and trigeminocerebellar systems. The new experimental data were combined, in the same coordinate based diagrams, with previously published data made available via a neuroinformatics data repository (www.nesys.uio.no/Database, see also www.cerebellum.org). Three-dimensional atlasing, internal nuclear coordinate systems, and consistent formats for presentation of neuroanatomic data in web-based data repositories, offer new opportunities for efficient analysis and re-analysis of neuroanatomic data.

Animals↗

Distribution, diversity and activity of microorganisms in the hyper-alkaline spring waters of Maqarin in Jordan.

The hyper-alkaline, high-Ca(2+) springs of Maqarin, Jordan, were investigated as an analogue for various microbial processes at the extremely high pH generated by cement and concrete in some underground radioactive waste repositories. Leaching of metamorphic, cementitious phases in Maqarin has produced current, hyper-alkaline groundwater with a maximum pH of 12.9. Six consecutive expeditions were undertaken to the area during 1994-2000. The total number of microorganisms in the alkaline waters was 10(3)-10(5) cells/ml. Analysis of the 16S-ribosomal ribonucleic acid (rRNA) diversity revealed microorganisms mainly belonging to the Proteobacteria. Obvious similarities between the obtained sequences and sequences from other alkaline sites could not be found. Numerous combinations of culture media compositions were inoculated with spring, seepage and groundwaters and incubated under aerobic and anaerobic conditions with various carbon sources. Assimilation studies were performed using identical radio-labeled carbon sources. Glucose seemed to be the preferred carbon source for assimilation, followed by acetate, lactate, and leucine. The results demonstrate that microorganisms from the hyper-alkaline springs of Maqarin could grow and be metabolically active under aerobic and anaerobic hyper-alkaline conditions. However, the growth and activity found were not vigorous; instead, slow growth, low numbers, and a generally low metabolic activity were found. This suggests that microbial activity will be low during the hyper-alkaline phase of cementitious repositories.

Carbon↗

Relational data model for the American College of Radiology Appropriateness Criteria.

This article describes a data model for encoding the American College of Radiology Appropriateness Criteria (ACRAC) for selection of diagnostic imaging procedures. These guidelines are recognized widely as an authoritative repository of "best evidence" concerning appropriate radiology tests for a large number of clinical conditions. In its current text document format, the ACRAC is of limited utility for electronic use. The data model the authors propose completely encodes all attributes and domains of the published guidelines and is suitable for translation into any industry standard relational database system. Additionally, the authors have added mappings onto commonly used procedure (CPT) and clinical problem (ICD) coding systems. When populated with the current ACRAC content, such a database could serve as the "master" repository of the guidelines with changes and additions made via an interface built with standard database application development tools. The database also could be made available for incorporation into existing information systems used for order entry, decision support, compliance tracking, and health services research at regional and national levels.

Databases, Factual↗

An OGSA Middleware for managing medical images using ontologies.

This article presents a Middleware based on Grid Technologies that addresses the problem of sharing, transferring and processing DICOM medical images in a distributed environment using an ontological schema to create virtual communities and to define common targets. It defines a distributed storage that builds-up virtual repositories integrating different individual image repositories providing global searching, progressive transmission, automatic encryption and pseudo-anonimisation and a link to remote processing services. Users from a Virtual Organisation can share the cases that are relevant for their communities or research areas, epidemiological studies or even deeper analysis of complex individual cases. Software architecture has been defined for solving the problems that has been exposed before. Briefly, the architecture comprises five layers (from the more physical layer to the more logical layer) based in Grid Technologies. The lowest level layers (Core Middleware Layer and Server Services sc layer) are composed of Grid Services that implement the global managing of resources. The Middleware Components Layer provides a transparent view of the Grid environment and it has been the main objective of this work. Finally, the highest layer (the Application Layer) comprises the applications, and a simple application has been implemented for testing the components developed in the Components Middleware Layer. Other side-results of this work are the services developed in the Middleware Components Layer for managing DICOM images, creating virtual DICOM storages, progressive transmission, automatic encryption and pseudo-anonimisation depending on the ontologies. Other results, such as the Grid Services developed in the lowest layers, are also described in this article. Finally a brief performance analysis and several snapshots from the applications developed are shown. The performance analysis proves that the components developed in this work provide image processing applications with new possibilities for large-scale sharing, management and processing of DICOM images. The results show that the components fulfil the objectives proposed. The extensibility of the system is achieved by the use of open methods and protocols, so new components can be easily added.

Computer Communication Networks↗

Towards data warehousing and mining of protein unfolding simulation data.

OBJECTIVES: The prediction of protein structure and the precise understanding of protein folding and unfolding processes remains one of the greatest challenges in structural biology and bioinformatics. Computer simulations based on molecular dynamics (MD) are at the forefront of the effort to gain a deeper understanding of these complex processes. Currently, these MD simulations are usually on the order of tens of nanoseconds, generate a large amount of conformational data and are computationally expensive. More and more groups run such simulations and generate a myriad of data, which raises new challenges in managing and analyzing these data. Because the vast range of proteins researchers want to study and simulate, the computational effort needed to generate data, the large data volumes involved, and the different types of analyses scientists need to perform, it is desirable to provide a public repository allowing researchers to pool and share protein unfolding data. METHODS: To adequately organize, manage, and analyze the data generated by unfolding simulation studies, we designed a data warehouse system that is embedded in a grid environment to facilitate the seamless sharing of available computer resources and thus enable many groups to share complex molecular dynamics simulations on a more regular basis. RESULTS: To gain insight into the conformational fluctuations and stability of the monomeric forms of the amyloidogenic protein transthyretin (TTR), molecular dynamics unfolding simulations of the monomer of human TTR have been conducted. Trajectory data and meta-data of the wild-type (WT) protein and the highly amyloidogenic variant L55P-TTR represent the test case for the data warehouse. CONCLUSIONS: Web and grid services, especially pre-defined data mining services that can run on or 'near' the data repository of the data warehouse, are likely to play a pivotal role in the analysis of molecular dynamics unfolding data.

Computational Biology↗

Exploration and exploitation of clinical databases.

Clinical data repositories represent a potential gold mine of information and knowledge. Rapid access to such information can help bridge the gap between clinical care and research, support clinical and executive decision making, and improve the quality of care. A clinical database can be used in four ways: to display information about an individual patient (results reporting); to find data on a patient with similarities to one being seen (case finding); to describe a group of patients with at least one attribute in common (cohort description); and to analyze data patterns in terms of trends or relationships (predictive modeling). It seems unlikely that many important clinical questions will be subject to randomized clinical trials because of the ethics, logistics, and expense that would be involved. Evolving statistical and epidemiological methods allow us to approach these clinical data repositories with the purpose of building predictive models, but a clear understanding of the limitations of routinely collected clinical data and the inherent biases is necessary. The largest barrier to using routinely collected clinical data is not the limitations of the data themselves, but rather the lack of a data paradigm for the decision-maker. We present some of the problems and pitfalls in obtaining and using routinely collected data, based upon the use of ClinQuery at Boston's Beth Israel Hospital and the resources and traditions at the Mayo Clinic.

Databases, Factual↗

Polynuclear aromatic hydrocarbons in the United Kingdom environment: a preliminary source inventory and budget.

This paper presents the first attempt to quantify the production, cycling, storage and loss of PAHs in the UK environment. Over 53 000 tonnes of sigmaPAHs (sum of 12 individual compounds) are estimated to reside in the contemporary UK environment, with soil being the major repository. If soils at contaminated sites are included, this estimate increases dramatically. Emission of PAHs to the UK atmosphere from primary combustion sources are estimated to be greater than 1000 tonnes sigmaPAHs per annum, with over 95% coming from domestic coal combustion, unregulated fires and vehicle emissions. It is estimated that approximately 210 tonnes of sigmaPAH are delivered to terrestrial surfaces each year via atmospheric deposition. Therefore, inputs of PAHs to the UK atmosphere outweigh the outputs by a factor of over 4. This may be explained by enhanced particulate deposition near point sources, PAH degradation in the atmosphere and transport away from the UK with prevailing winds. Disposal of waste residues is estimated to contribute a further 1000 tonnes of sigmaPAH per year to the terrestrial environment. It is illustrated that the use of creosote has the potential to release considerable quantities of PAHs to the UK environment. Temporal trends in PAH cycling are then considered. There is good evidence to suggest that air concentrations and fluxes to the UK surface are now lower than at any time throughout this century. Nonetheless, the UK sigmaPAH burden is still increasing at the present time, principally through retention by soils. However, there are marked differences in the behaviour of individual compounds: there is evidence, for example, that phenanthrene concentrations in soils have declined since the 1960s, although soil concentrations of benzo[a]pyrene and other heavier PAHs have continued to increase through this century. Volatilisation of low molecular weight PAHs accumulated in soils over previous decades may be making an important contribution to the current atmospheric burden. The major uncertainties identified by data on this budget are: (1) the lack of PAH concentrations in some environmental matrices; (2) the possible importance of contaminated soils as a major repository and source of PAHs; (3) the lack of emission data (especially vapour phase releases) for some PAH sources; (4) the importance of biodegradation and volatilisation as loss mechanisms for low molecular weight PAHs in soils; and (5) the importance of creosote use in the PAH cycle.

Journal Article↗

Linking the human cytogenetic map with nucleotide sequence: the CCAP clone set.

We present the completed dataset and clone repository of the Cancer Chromosome Aberration Project (CCAP), an initiative developed and funded through the intramural program of the U.S. National Cancer Institute, to provide seamless linkage of human cytogenetic markers with the primary nucleotide sequence of the human genome. Spaced at 1-2 Mb intervals across the human genome, 1,339 bacterial artificial chromosome (BAC) clones have been localized to chromosomal bands through high-resolution fluorescence in situ hybridization (FISH) mapping. Of these clones, 99.8% can be positioned on the primary human genome sequence and 95% are placed at or close to their precise nucleotide starts and stops. This dataset can be studied and manipulated within generally available public Web sites. The clones are available from a commercial repository. The CCAP BAC clone set provides anchors for the interrogation of gene and sequence involvement in oncogenic and developmental disorders when the starting point is the recognition of a structural, numerical, or interstitial chromosomal aberration. This dataset also provides a current view of the quality and coherence of the available genome sequence and insight into the nucleotide and three-dimensional structures that manifest as Giemsa light and dark chromosomal banding patterns.

Base Composition↗

Nicephor[e]: a web-based solution for teaching forensic and scientific photography.

Nicephor[e] is a project funded by "Swiss Virtual Campus" and aims at creating a distant or mixed web-based learning system in forensic and scientific photography and microscopy. The practical goal is to organize series of on-line modular courses corresponding to the educational requirements of undergraduate academic programs. Additionally, this program could be used in the context of continuing educational programs. The architecture of the project is designed to guarantee a high level of knowledge in forensic and scientific photographic techniques, and to have an easy content production and the ability to create a number of different courses sharing the same content. The e-learning system Nicephor[e] consists of three different parts. The first one is a repository of learning objects that gathers all theoretical subject matter of the project such as texts, animations, images, and films. This repository is a web content management system (Typo3) that permits creating, publishing, and administrating dynamic content via a web browser as well as storing it into a database. The flexibility of the system's architecture allows for an easy updating of the content to follow the development of photographic technology. The instructor of a course can decide which modular contents need to be included in the course, and in which order they will be accessed by students. All the modular courses are developed in a learning management system (WebCT or Moodle) that can deal with complex learning scenarios, content distribution, students, tests, and interaction with instructor. Each course has its own learning scenario based on the goals of the course and the student's profile. The content of each course is taken from the content management system. It is then structured in the learning management system according to the pedagogical goals defined by the instructor. The modular courses are created in a highly interactive setting and offer autoevaluating tests to the students. The last part of the system is a digital assets management system (Extensis Portfolio). The practical portion of each course is to produce images of different marks or objects. The collection of all this material produced, indexed by the students and corrected by the instructor is essential to the development of a knowledge base of photographic techniques applied to a specific forensic subject. It represents also an extensible collection of different marks from known sources obtained under various conditions. It allows to reuse these images for creating image-based case files.

Computer-Assisted Instruction↗

Tissues from population-based cancer registries: a novel approach to increasing research potential.

Population-based cancer registries, such as those included in the Surveillance, Epidemiology, and End-Results (SEER) Program, offer tremendous research potential beyond traditional surveillance activities. We describe the expansion of SEER registries to gather formalin-fixed, paraffin-embedded tissue from cancer patients on a population basis. Population-based tissue banks have the advantage of providing an unbiased sampling frame for evaluating the public health impact of genes or protein targets that may be used for therapeutic or diagnostic purposes in defined communities. Such repositories provide a unique resource for testing new molecular classification schemes for cancer, validating new biologic markers of malignancy, prognosis and progression, assessing therapeutic targets, and measuring allele frequencies of cancer-associated genetic polymorphisms or germline mutations in representative samples. The assembly of tissue microarrays will allow for the use of rapid, large-scale protein-expression profiling of tumor samples while limiting depletion of this valuable resource. Access to biologic specimens through SEER registries will provide researchers with demographic, clinical, and risk factor information on cancer patients with assured data quality and completeness. Clinical outcome data, such as disease-free survival, can be correlated with previously validated prognostic markers. Furthermore, the anonymity of the study subject can be protected through rigorous standards of confidentiality. SEER-based tissue resources represent a step forward in true, population-based tissue repositories of tumors from US patients and may serve as a foundation for molecular epidemiology studies of cancer in this country.

Biomarkers, Tumor↗

Six methodological steps to build medical data warehouses for research.

PURPOSE: We propose a simple methodology for heterogeneous data collection and central repository-style database design in healthcare. Our method can be used with or without other software development frameworks, and we argue that its application can save a relevant amount of implementation effort. Also, we believe that the method can be used in other fields of research, especially those that have a strong interdisciplinary nature. BACKGROUND: The idea emerged during a healthcare research project, which consisted among others in grouping information from heterogeneous and distributed information sources. We developed this methodology by the lessons learned when we had to build a data repository, containing information about elderly patients flows in the UK's long-term care system (LTC). DESIGN: We explain thoroughly those aspects that influenced the methodology building. The methodology is defined by six steps, which can be aligned with various iterative development frameworks. We describe here the alignment of our methodology with the RUP (rational unified process) framework. The methodology emphasizes current trends, as early identification of critical requirements, data modelling, close and timely interaction with users and stakeholders, ontology building, quality management, and exception handling. RESULTS: Of a special interest is the ontological engineering aspect, which had the effects with the highest impact after the project. That is, it helped stakeholders to perform better collaborative negotiations that brought better solutions for the overall system investigated. An insight into the problems faced by others helps to lead the negotiators to win-win situations. We consider that this should be the social result of any project that collects data for better decision making that leads finally to enhanced global outcomes.

Computer Communication Networks↗

Scoping analyses of geochemical sealing of early cracks in a waste container and associated drip shield, Yucca Mountain, Nevada.

Early after final emplacement of the nuclear waste containers at the proposed Yucca Mountain, Nevada, high-level-waste repository, tiny cracks (less than 200 microm wide, 1 to 2 cm deep, and a few centimeters long at most) could appear in the containers and in the drip shield protecting them. Modeling calculations were performed to understand how fast those cracks could be sealed. Under dripping conditions, they are expected to be bridged with water. If cracks are located in the drip shield, any further dripping on the waste containers located underneath will be limited. If cracks are located in a container, potentially harmful radionuclides could only travel by diffusion. In addition, water-bridged cracks will be sealed through at least two processes: precipitation of calcite with minor silica following evaporative concentration of the water residing in the cracks and continuous corrosion of the crack walls. The sealing rate is calculated as the intersection of the time of emergence of the cracks, the water dripping rate, and the decreasing evaporation rate. The evaporative driving force declines as short-lived radioactive elements, having given up much of the heat affecting the repository, are progressively depleted from the waste. Depending on the crack initiation time and environmental conditions, crack sealing varies from a few tens of years to a few thousand years. Because environmental conditions in the vicinity of the cracks and at the crack scale have not been produced, a parametric method scaling drift scale conditions is used.

Calcium Carbonate↗

Large-scale modeling of reactive solute transport in fracture zones of granitic bedrocks.

Final disposal of high-level radioactive waste in deep repositories located in fractured granite formations is being considered by several countries. The assessment of the safety of such repositories requires using numerical models of groundwater flow, solute transport and chemical processes. These models are being developed from data and knowledge gained from in situ experiments such as the Redox Zone Experiment carried out at the underground laboratory of Aspö in Sweden. This experiment aimed at evaluating the effects of the construction of the access tunnel on the hydrogeological and hydrochemical conditions of a fracture zone intersected by the tunnel. Most chemical species showed dilution trends except for bicarbonate and sulphate which unexpectedly increased with time. Molinero and Samper [Molinero, J. and Samper, J. Groundwater flow and solute transport in fracture zones: an improved model for a large-scale field experiment at Aspö (Sweden). J. Hydraul. Res., 42, Extra Issue, 157-172] presented a two-dimensional water flow and solute transport finite element model which reproduced measured drawdowns and dilution curves of conservative species. Here we extend their model by using a reactive transport which accounts for aqueous complexation, acid-base, redox processes, dissolution-precipitation of calcite, quartz, hematite and pyrite, and cation exchange between Na+ and Ca2+. The model provides field-scale estimates of cation exchange capacity of the fracture zone and redox potential of groundwater recharge. It serves also to identify the mineral phases controlling the solubility of iron. In addition, the model is useful to test the relevance of several geochemical processes. Model results rule out calcite dissolution as the process causing the increase in bicarbonate concentration and reject the following possible sources of sulphate: (1) pyrite dissolution, (2) leaching of alkaline sulphate-rich waters from a nearby rock landfill and (3) dissolution of iron monosulphides contained in Baltic seafloor sediments. Based on these results, microbially mediated processes are postulated as the most likely hypothesis to explain the measured increase of dissolved bicarbonates and sulphates after tunnel construction.

Bicarbonates↗