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The database has now been updated to include ALL mutations found in HUS patients, including those in Factor I(FI) and Membrane (MCP). Homology models are available for the domains of FI and MCP and all analysis previously available for Factor H (FH) are now also available for FI and MCP. All SNP records for FH, FI and MCP are also now included in the database on the SNP pages. Only those SNPs within coding regions will be included in the full list of mutations and within the advanced search. For more information on the different versions of the database click here. We have also redesigned the site in order to display information more clearly. Please let us know what you think of the new design. Home Information Mutations Models References Links Submit Contact Us Help Collaborators NEWS !! SEP 2009 The database has now been recovered. Please report any bugs that you notice. NEWS !! MAY 2009 We have suffered from a complete server failure this month but these issues have been sorted out and work is being carried out to restore all the data within our FH-HUS database. Sorry for any inconvenience this may have caused. NEWS !! JAN 2007 Mutations within complement Factor B have also been associated with aHUS. (Goicoechea de Jorge et al., 2007) NEW !! Nov 2006 FH-HUS Database Version 2.1 The database has now been updated to include ALL mutations found in HUS patients, including those in Factor I(FI) and Membrane (MCP). Homology models are available for the domains of FI and MCP and all analysis previously available for Factor H (FH) are now also available for FI and MCP. All SNP records for FH, FI and MCP are also now included in the database on the SNP pages. Only those SNPs within coding regions will be included in the full list of mutations and within the advanced search. For more information on the different versions of the database click here. We have also redesigned the site in order to display information more clearly. Please let us know what you think of the new design. Quick Search Enter Codon No : Choose Protein : Advanced Search Have you or someone you know been diagnosed with aHUS? The information contained on this web site is provided for scientific research purposes only. We do not give medical advice or recommend any particular treatment for specific individuals. Here are several links for patient information on aHUS: http://renux.dmed.ed.ac.uk/ http://en.wikipedia.org/ http://kidney.niddk.nih.gov http://www.webmd.com HUS HUS (Haemolytic Uraemic Syndrome) is a disease associated with microangiopathic haemolytic anemia, thrombocytopenia and acute renal failure. A subgroup of the syndrome is strongly associated with abnormalities within the complement regulator factor H gene. To read information on HUS click here. To read information on Factor H (FH) click here. FH Mutations There are currently 74 Factor H mutations, 10 Factor I mutations and 25 MCP mutations linked with HUS patients within this database. There are also 5 mutations within FH that are associated with MPGN patients. . Following HGVS guidelines, mutations are numbered starting from the ATG initiation codon and include the 18-residue signal peptide. The number of the codon with respect to the mature FH protein and consistent with the RSCB PDB entry for secreted FH (1haq.pdb) is shown alongside in parenthesis. Type I and Type II Phenotype Type I indicates that the mutant protein is either absent from the plasma or present in lower amounts. This indicates the mutation has a structural effect on the mutant protein - ie reducing the stability Type II indicates that the mutant protein is present in normal amounts in plasma. This indicates that the mutation has a functional effect on the protein ie affecting substrate binding References There are three references you can use to reference this database Saunders et al, 2007. The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. Hum Mutat. 2007 28:222-234. Saunders et al, 2006. An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations. Hum Mutat. 2006 27:21-30. Saunders & Perkins, 2006. A user''s guide to the interactive Web database of factor H-associated hemolytic uremic syndrome. Semin Thromb Hemost. 2006 32:160-8. Abstract. BACKGROUND: cblC disease is a cause of hemolytic uremic syndrome (HUS), which has been primarily described in neonates and infants with severe renal and neurological lesions. PATIENTS: Two sisters aged 6 and 8.5 years presented with a latent hemolytic process characterized by undetectable or low plasma haptoglobin, respectively, associated with renal failure and gross proteinuria. Renal biopsies performed in both patients found typical findings of thrombotic microangiopathy suggesting the diagnosis of HUS. Both patients were free of neurologic signs. RESULTS: Biochemical investigations found a cobalamin processing deficiency of the cblC type. Search for additional factors susceptible to worsen endothelial damage revealed homozygosity 677C--> T mutation in the methylenetetrahydrofolate reductase gene as well as heterozygosity for a 3254T--> C mutation in factor H in the patient with the most severe clinical presentation. Long-term subcutaneous administration of hydroxocobalamin in combination with oral betaine and folic acid resulted in clinical and biological improvement in both patients. CONCLUSION: cblC disease may be a cause of chronic HUS with delayed onset in childhood. Superimposed mutation of factor H gene might influence clinical severity.

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• SciCrunch
• 17 years ago - by Anonymous

EyesWeb refers both to the research projects of InfoMus Lab on multimodal interactive systems and expressive gesture, and to the open software platform to support the development of real-time multimodal distributed interactive applications. The EyesWeb project started in 1997, as a natural evolution of the HARP Project (see www.infomus.org). The current release of the open software platform is EyesWeb XMI (eXtended Multimodal Interaction). The EyesWeb software platform has been developed in EU IST projects in the 5th (MEGA, www.megaproject.org) and 6th Framework Programme (TAI-CHI, Tangible Acoustic Interfaces for Computer Human Interaction). EyesWeb has been adopted in several other EU projects, has been licensed to more than 15,000 individual users, companies, and institutions. EyesWeb is also used in University courses and summer schools (e.g. the New York University Summer Program on Music, dance and new technologies). Software tools EyesWeb open software platform FreeFrame SDK Harp Petri Net Visual Editor and Simulation Software (Linux Version) Petri Net Visual Editor and Simulation Software (Win32 Version) Hardware tools Wireless On-Body-Sensors-to-Midi Box Long-distances MIDI tx/rx Video Multiplexer for connecting and synchronizing two videocameras to the same frame grabber Multimedia interfaces for robot-human interaction DanceWeb ultrasound sensor system

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• SciCrunch
• 17 years ago - by Anonymous

Solvers, or optimizers, are software tools that help users find the best way to allocate scarce resources. The resources may be raw materials, machine time or people time, money, or anything else in limited supply. The best or optimal solution may mean maximizing profits, minimizing costs, or achieving the best possible quality. An almost infinite variety of problems can be tackled this way, but here are some typical examples: Finance and Investment Working capital management involves allocating cash to different purposes (accounts receivable, inventory, etc.) across multiple time periods, to maximize interest earnings. Capital budgeting involves allocating funds to projects that initially consume cash but later generate cash, to maximize a firm''s return on capital. Portfolio optimization -- creating efficient portfolios -- involves allocating funds to stocks or bonds to maximize return for a given level of risk, or to minimize risk for a target rate of return. Manufacturing Job shop scheduling involves allocating time for work orders on different types of production equipment, to minimize delivery time or maximize equipment utilization. Blending (of petroleum products, ores, animal feed, etc.) involves allocating and combining raw materials of different types and grades, to meet demand while minimizing costs. Cutting stock (for lumber, paper, etc.) involves allocating space on large sheets or timbers to be cut into smaller pieces, to meet demand while minimizing waste. Distribution and Networks Routing (of goods, natural gas, electricity, digital data, etc.) involves allocating something to different paths through which it can move to various destinations, to minimize costs or maximize throughput. Loading (of trucks, rail cars, etc.) involves allocating space in vehicles to items of different sizes so as to minimize wasted or unused space. Scheduling of everything from workers to vehicles and meeting rooms involves allocating capacity to various tasks in order to meet demand while minimizing overall costs.

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• SciCrunch
• 17 years ago - by Anonymous

Mission The Foundation for Informed Medical Decision Making is a non-profit organization dedicated to assuring that people understand their choices and have the information they need to make sound decisions affecting their health and well being. To accomplish our mission: We promote understanding and adoption of informed medical decision-making. We organize and frame medical evidence in an unbiased manner to help people evaluate their options, particularly in instances where differences in individual preferences and perspectives are likely to affect personal choice. We sponsor research to expand knowledge of how to improve decision quality in health care. Medical Evidence The science of medical care is advancing at a rate that makes the delivery of quality patient-focused care an enormous challenge. New information about disease biology and genetics, rapid development of new tests and treatments, and the shift in disease from largely acute to largely chronic are all important contributing factors. Patient Perspective Medical research on practice variation indicates that patient perspectives are often less important in treatment decisions than factors having little to do with patients or their illnesses, such as geography, economics or supplier-induced demands. The Foundation brings the patient perspective into focus by interviewing real patients who can talk about the choices they made and why. Without the perspective of the patient, we cannot achieve a quality medical decision. Informed Medical Decisions The Foundation believes that it is the convergence of the two concepts: medical evidence and patient perspectives that create a truly informed decision in medical care. Funding The Foundation has worked in a unique partnership with Health Dialog since 1997. Health Dialog delivers patient support services to employers and health plans that are committed to providing excellence to their members or employees. As of July 2006, Health Dialog served seventeen million people through its contracts with healthcare insurers and corporations. Access to the Foundation''s decision support materials is a key benefit that Health Dialog''s clients receive. Health Dialog produces the Foundation''s new programs and distributes decision support materials and services to patients. A portion of Health Dialog''s revenue goes to the Foundation in the form of royalties to support the development of new decision support materials and research on how best to support patient decisions. The Foundation does not accept funding from any source that has a financial interest in any particular approach to medical testing or treatment. Foundation employees and clinical content experts do not accept support from companies that commercially market any kind of treatment or device that might be relevant to a program.

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• SciCrunch
• 17 years ago - by Anonymous

THIS RESOURCE IS NO LONGER IN SERVICE documented on June 4, 2013. Aldente is a tool to identify proteins from peptide mass fingerprinting data. This fast and powerful tool takes advantage of the Hough transform for spectra recalibration and outlier exclusion. The Aldente search form can be used in two modes: for a global view of all the search parameters on one page: click on the section tab All. This global view is useful to have a quick overview before sending the query. to have search parameters grouped into smaller logical sections: click on the corresponding section tab in the tabs banner. Note! Moving from one section to another keeps search parameter selections. For your convenience, you may view / hide the help during your search parameters selection. Use the Help or No help section tab accordingly.

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• SciCrunch
• 17 years ago - by Anonymous

This website is an invitation. an invitation to join scientists and stakeholders in an effort to review the scientific basis of traditional toxicological risk assessment, to provide the toxicological community with the tools it needs to efficiently and transparently judge risks of a diversifying nature and to make toxicology thus fit to meet the challenges of the 21st century. an invitation to participate in the inception and continuous implementation of a new movement in toxicology that aims at adopting an evidence-based approach. an invitation to help bridging the gap between modern toxicological science and risk assessment in order to exploit the wealth of information from new technologies in modern life sciences & toxicological research and to arrive at informed, transparent, judicious and conscientious decisions made on the basis of all evidence available. an invitation to develop a framework that allows combining precious expert insight grown over years of practical experience with structured approaches in basic science, in method assessment and in decision-making. Such evidence-based toxicology might help to make the best possible use of all sources of evidence in an efficient, productive, reliable, acceptable and transparent manner. Why do we need evidence-based toxicology (EBT)? Toxicology and the delivery of effective safety assessment critically relies on concepts and understanding generated by basic scientific research and must therefore adapt constantly to advances in knowledge. However, particularly from the perspective of regulatory toxicology, some of the assessment paradigms and methodologies were established decades ago and have changed little in response to scientific progress. At the same time, changes in our understanding of human disease, changes in the types of product now requiring safety assessment, and changes in the legislative landscape and public expectations pose significant challenges for industry, academia and regulators alike. It is necessary to challenge the status quo and ensure that as a matter of course best scientific practice and technical sophistication is reflected in safety assessment practices such that current and future challenges can be met. It is important therefore to ensure that structures are available that will encourage, facilitate and support a process of critical appraisal and renewal of the toxicological repertoire available for safety assessment. Part of this process is to embrace evidence-based toxicology such that the best possible scientific evidence is applied to judge product safety and likely risks to human health.

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• SciCrunch
• 17 years ago - by Anonymous

Core facility that provides the following services: Flow cytometry equipment and software access, FACS machine training, FACS data analysis, FACS analysis and population isolation, FACS assay consultation. The goals of this Core Facility are to provide flow cytometry services for Howard University?s research investigators, and develop new applications.

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• SciCrunch
• 13 years ago - by Anonymous

The directing and coordinating authority responsible for public health within the United Nations system. The WHO Regional Office for Europe (WHO/Europe) is one of the six regional offices around the world. It serves the WHO European Region, which comprises 53 countries from the Atlantic to the Pacific oceans. WHO/Europe collaborates with a range of public health stakeholders in the Region and globally, to ensure that coordinated action is taken to develop and implement efficient health policies and to strengthen health systems. WHO/Europe is made up of public health, scientific, and technical experts.

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• SciCrunch
• 17 years ago - by Anonymous

ECVAM was created by a Communication from the Commission to the Council and the Parliament in October 1991*, pointing to a requirement in Directive 86/609/EEC** on the protection of animals used for experimental and other scientific purposes, which requires that the Commission and the Member States should actively support the development, validation and acceptance of methods which could reduce, refine or replace the use of laboratory animals: Article 7.2: An experiment shall not be performed if another scientifically satisfactory method of obtaining the result sought, not entailing the use of an animal, is reasonably and practicably available. Article 23: The Commission and Member States should encourage research into the development and validation of alternative techniques which could provide the same level of information as that obtained in experiments using animals, but which involve fewer animals or which entail less painful procedures, and shall take such other steps as they consider appropriate to encourage research in this field. ECVAM has been established in 1992 as a unit of the Environment Institute, part of the Joint Research Centre, and has been transferred to, at that time, newly formed Institute for Health and Consumer Protection in Ispra, Italy in 1998 of which ECVAM is still part of. Duties of ECVAM As defined in the Communication of the European Commission to Council and the European Parliament in October 1991*: 1. To coordinate the validation of alternative test methods at the European Union level. 2. To act as a focal point for the exchange of information on the development of alternative test methods. 3. To set up, maintain and manage a data base on alternative procedures. 4. To promote dialogue between legislators, industries, biomedical scientists, consumer organisations and animal welfare groups, with a view to the development, validation and international recognition of alternative test methods. Moreover, ECVAM should help to expand the JRC''s role in prenormative research. ECVAM thus seeks to promote the scientific and regulatory acceptance of alternative methods which are of importance to the biosciences, through research, new test development and validation, and the establishment of specialised databases, with the aim of contributing to the replacement, reduction and refinement of laboratory animal precedures (in accordance with the 3Rs concept of Russell & Burch***) Due to the political sensitivity of its duties, ECVAM, uniquely at the JRC, has its own Scientific Advisory Committee (ESAC) with participation from all Member States, relevant industrial associations, academic toxicology, the animal welfare movement, as well as other Commission services with interest in the alternatives topic area. The Validation Process Validation is the process by which the reliability and relevance of a procedure are established for a specific purpose. In 1995, based upon experience gained during several recent large-scale validation studies, and in consultation with various international experts (including members of ERGATT), ECVAM published recommendations concerning the practical and logistical aspects of validating alternative test methods (ECVAM workshop report 5). Five main stages in the evolution of new test methods were identified: test development; prevalidation; validation (involving a formal interlaboratory study with the testing of coded chemicals); independent assessment; and progression toward regulatory acceptance. ECVAM has implemented a prevalidation scheme, which includes three main phases: protocol refinement, protocol transfer, and protocol performance. The objective of the prevalidation process is to ensure that any method included in a formal validation study adequately fulfills the criteria defined for inclusion in such a study, so that financial and human resources are used more efficiently, and so that there is a greater likelihood that the expectations of those in the scientific, regulatory and animal welfare communities, who seek the replacement of current animal tests by relevant and reliable alternative methods, will be met. In 2004, ECVAM has published the Modular Approach to the ECVAM Principles on Test Validity (select from the top-menu bar the sector Publications followed by ECVAM Selected Articles) that makes the validation process more flexible, by breaking down the various steps in validation into indipendent modules, and defining for each module the information needed for assessing test validity. Collaborations ECVAMs activities are undertaken in collaboration with numerous laboratories and organisations in the EU Member States, and all over the world. ECVAM also works in close collaboration with other Commission services, such as DG Environment, DG Enterprise, DG Research and DG Health and Consumer Protection. Sponsor. This is a Five years project funded by DG RTD that aims to develop a testing strategy to improve the prediction of oral acute toxicity using non-animals based systems.

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• SciCrunch
• 17 years ago - by Anonymous

Integration objectives Training and education Standardisation in technology Share of material Web based sharing of information and communication Translational research Spreading excellence objectives Coordinated by Treviso Courses on bone pathology and molecular biology Standard Operation Protocols Web-based discussion forums Research objectives Work packages on: Cartilaginous Tumours (Leiden) Osteogenic Tumours (Munster) Giant Cell Tumours (Oxford) Ewing Sarcoma (Bologna)

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• SciCrunch
• 17 years ago - by Anonymous

Emphron Informatics provides full data management and statistical analysis services across the range of biological research. Our areas of expertise include: Biotechnology - especially drug and diagnostic discovery. We have world class expertise in the management and analysis of data from modern discovery platforms, including gene chips, next generation sequencing, and antibody arrays. Clinical Research - We are experienced in the management and statistical analysis of data from regulatory trials (across a range of theraputic areas and development phases), and we provide low-cost flexible solutions for investigator initiated trials. Environmental Studies. We provide data management, statistical design and statistical analysis services. Emphron Solutions We meet client needs in these areas through a number of solution types: Hosted data management and analysis services. We provide on-line web-enabled data management and analysis systems tailored to our clients needs across our interest areas. These include on-line 21CFR11 compliant clinical databases, gene chip data management and analysis systems, and environmental monitoring databases. These systems are hosted in our enterprise class data centre Full service data management and data analysis. We take over all of your data management and data analysis needs, and provide solutions based on our in-house tools and technologies. System development and integration. We build tailored data management and analysis systems, based on open-source components and install them on your premises. Emphron Professionals Emphron professionals are mostly qualified to Doctoral level, with many years experience of advanced informatics and statistics. They combine cutting-edge technology knowledge, with a sound grasp of business and practical realities.

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• SciCrunch
• 17 years ago - by Anonymous

AMSER is a portal of educational resources and services built specifically for use by those in Community and Technical Colleges but free for anyone to use. AMSER provides links to resources for faculty, staff, librarians, students and others for use in both educational settings or in their pursuit of life long learning. Sponsors: AMSER is funded by the National Science Foundation (NSF) as part of the National Science Digital Library, and is being created by a team of project partners led by Internet Scout.

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• SciCrunch
• 17 years ago - by Anonymous

emergent is a comprehensive, full-featured neural network simulator that allows for the creation and analysis of complex, sophisticated models of the brain in the world. With an emphasis on qualitative analysis and teaching, it also supports the workflow of professional neural network researchers. Its high level drag-and-drop programming interface, built on top of a scripting language that has full introspective access to all aspects of networks and the software itself, allows one to write programs that seamlessly weave together the training of a network and evolution of its environment without ever typing out a line of code. Networks and all of their state variables are visually inspected in 3d, allowing for a quick visual regression of network dynamics and robot behavior. This same 3d world sports a highly accurate Newtonian physics simulation, allowing you to create rich robotics simulations (for example, a car). As a direct descendant of PDP (1986) and PDP (1999), emergent has been in development for decades. In the most recent versions available strive to distill it down to its essential elements. Those that take the time to learn the best practices will be rewarded with the ability to create and understand the most complicated neural models ever published.