43 results about "Rare disease" patented technology

We describe methods and apparatus for high-speed high-contrast imaging one-, two- and three-dimensional imaging enabled by differential interference contrast time encoded amplified microscopy of transparent media without the need for chemical staining, that are suitable for a broad range of applications from semiconductor process monitoring to blood screening. Our methods and apparatus build on a unique combination of serial time-encoded amplified microscopy (STEAM) and differential interference contrast (DIC) microscopy. These methods and apparatus are ideally suited for identification of rare diseased cells in a large population of healthy cells and have the potential to revolutionize blood analysis and pathology including identification of cancer cells, such as Circulating Tumor Cells (CTC) in early stage disease.

The invention discloses a medical insurance big data based analysis method for measuring and calculating the incidence of rare diseases, and relates to medical insurance data processing and analysis technologies. Measured and calculated diseases are diseases that cannot be completely cured, so that people have to suffer from the diseases for life long time if the diseases are diagnosed. Numeratorand denominator information required by incidence calculation can be obtained by summarizing multiple key parameters of medical insurance data every month, so that the incidence can be obtained through calculation, wherein the numerator is the number of new cases of a target disease in a certain range of population within specific time, and the denominator is the number of exposed populations within the specific time, that is, people may have the target disease, but people, which have already had the disease and cannot become the new cases, need to be excluded. The incidence data can be obtained through the method, so that the development of epidemiological study of rare diseases can be promoted, and data and technology support can be provided for the reasonable making of clinical guidelines; and conversion applications of medical insurance big data can be further promoted, and the blank of epidemiological data on rare diseases in China can be filled up.

An online system and method enabling users to exchange information and establish collaboration in scientific projects on rare diseases is described. The website allows users to create a list of symptoms for a patient with a rare disease who is under their care. The patient's list of symptoms is then used to find other patients sharing a similar list of symptoms. A matching system creates a match report that ranks patients with similar symptoms. Once a list of potential matches is available, the user may take the initiative of contacting other colleagues with similar clinical cases under their care, for the purpose of exchanging information and / or establishing collaboration in scientific projects about a particular rare disease. A database containing information on rare diseases, along with other services, is also provided to the users at the website.

The invention discloses a rare disease registration system. The system comprises a client and a server end; the client and the server end perform data interaction; the server end comprises a rare disease knowledge base management module which is used for integrating rare disease related data from a plurality of data sources and providing the rare disease related data for a user; a rare disease case data sharing module which is used for counting case data of each rare disease for a user to check; and a rare disease registration service subsystem. Therare disease registration service subsystemcomprises a user identity authentication module used for managing user registration information of various users and verifying the user registration information of the users when the users log in the service subsystem; a workbench module used for providing a tool set used by a user during disease research; a group management module used for managing the research group created by the user; and a formtemplate management module used for managing the research form template related to each rare disease. According to the invention, researchers can be assisted to carry out effective rare disease research, so that the diagnosis efficiency of rare diseases is improved.

The invention discloses a rare disease auxiliary analysis method based on artificial intelligence. The method comprises the following steps of: obtaining a rare patient behavior log in a log source; extracting related features of a rare patient in the rare patient behavior log; performing similarity comparison on the related features of the rare patient and rare patient feature vectors in a rare patient feature library, and selecting the rare patient feature vector with the highest similarity as the feature vector of the rare patient; pushing a corresponding treatment scheme to the rare patient according to the feature vector of the rare patient; and conducting clustering analysis on the feature vector of the rare patient, and adding the feature vector of the rare patient to a corresponding position of a group feature library according to the clustering analysis result. According to the method, the group feature library can be perfected, a rare disease knowledge database can be established, the behaviors of a user can be analyzed, a corresponding treatment scheme can be pushed to the user according to the analysis result, and the problems of rare disease patient multivariate heterogeneous data storage and automatic analysis are solved.

The invention discloses a cross-platform distributed rare disease management system, which comprises an application layer, a middle layer, a data storage layer and a base layer; the application layercomprises a client, a WEB end and an API interface; the data storage layer comprises a database; the basic layer comprises a server and is used for managing rare diseases, integrating resource information related to the rare diseases and storing the resource information through the database. The resource information related to the rare diseases can be conveniently managed, and the resource information related to the rare diseases is centrally managed. The system can better perform analytical statistics on various data, improves the credibility level of analysis and statistics through big data,can be used for management of patients with rare diseases in hospitals, reduces the workload of medical staff, enables doctors to master the conditions of the patients conveniently, can be used for scientific research related to rare diseases, and provides sufficient medical record data and analysis and statistics support. Related organizations can master resource information related to the rarediseases and related conditions of the patients with the rare diseases through the system, and the application also benefits the patients with the rare diseases.

Disclosed are methods for detecting and / or prioritizing phenotype-causing genomic variants and related software tools. The methods include genomic feature based analysis and can combine variant frequency information with sequence characteristics such as amino acid substation. The methods disclosed are useful in any genomics study; for example, rare and common disease gene discovery, tumor growth mutation detection, personalized medicine, agricultural analysis, and centennial analysis.

The invention discloses a rare disease diagnosis system and teaching application thereof. The rare disease diagnosis system comprises a cloud database, the cloud database is connected with a hospitalmaster control center through a verification system, the hospital master control center comprises a background server module, the background server module is sequentially connected with an informationmemory, a short message sending module, a keyword matching module, an examination data scanning input module and a disease risk degree analysis module, wherein the keyword matching module, the examination data scanning input module and the disease risk degree analysis module are connected with a foreground computer module, and the foreground computer module is connected with the background servermodule through a queuing module. The rare disease diagnosis system and the teaching application thereof have the advantages that diagnosis and treatment doctors with a certain experience can be quickly found, manpower and material resources are reduced, the probability that a patient runs back and forth to find treatment and consequently treatment is delayed is avoided, the referral speed is high, and the probability that the patient is treated and rehabilitated is increased.

The invention discloses a diagnostic marker of MRKH syndrome and application thereof. The diagnostic marker is a group of pathogenic genes related to MRKH syndrome carrying mutation sites. The research of the present invention utilizes the whole exome sequencing analysis to discover the following mutation sites on the PAX8 gene of patients with rare MRKH syndrome for the first time in the world: c.136G>A, c.266T>C, c. 619C>T, c.727C>G, the following mutation sites exist on the TBX6 gene: c.275_287dupTGGAGGAGGGCGG, c.621+1G>A. It has been verified by experiments that the genes carrying the above mutation sites can be used as diagnostic markers for MRKH syndrome, which can be used to diagnose whether a patient has MRKH syndrome, and provide a scientific basis for the next step of clinical early diagnosis of MRKH syndrome.

The invention discloses a method for measuring and calculating the incidence of rare diseases based on medical insurance big data, which involves medical insurance data processing and analysis technology. The calculated diseases cannot be completely cured, and once diagnosed, they will suffer for life. By summarizing multiple key parameters of monthly medical insurance data, the numerator and denominator information required for the calculation of the incidence rate is obtained, and then the incidence rate is calculated; the required numerator is the number of new cases of the target disease in a certain range of people within a specific time; the required The denominator is the number of exposed population within a certain period of time, that is, people who may develop the target disease, and it is necessary to exclude people who are already sick and are unlikely to become new cases within a certain period of time. The method of the invention can obtain the incidence data of rare diseases, promote the development of epidemiological research on rare diseases, provide data and technical support for the rational formulation of clinical guidelines; further promote the transformation and application of medical insurance big data, and fill the epidemiology of rare diseases in my country blank data.

The invention discloses a rare disease case registration system based on a B / S architecture, and the system comprises a client, a Web application server which is in communication connection with the client through the Internet, and a database server which is in communication connection with the Web application server through a switch. The client carries out data interaction with the Web application server through a Web browser. The Web application server comprises a user identity authentication and authority management assembly, an audit management assembly, a metadata management assembly, a form template management assembly in communication connection with the metadata management assembly, and a rare disease case data management assembly in communication connection with the form templatemanagement assembly. The database server comprises a rare disease case database server and a meta-database server. The system provided by the invention provides a plurality of tools which are easy touse and reliable, and can efficiently and comprehensively collect various rare disease cases, thereby laying a foundation for a next researcher to carry out effective rare disease research, and improving the diagnosis efficiency of rare diseases.

Devices for detection of antibodies against therapeutic drugs (ADAs), in which chimeric proteins facilitate immobilization and exposure of target epitopes, are described. Results can be obtained in minutes, enabling point of care testing and / or patient self-testing, and risk assessment. The data can also be used for deriving scientific knowledge in the fields of oncology, autoimmune diseases (including but not restricted to diabetes, multiple sclerosis and rheumatoid arthritis), cardiovascular diseases, rare diseases, and other diseases for which treatment comprises administration of a therapeutic drug and / or gene therapy.