Patents
Literature
Patsnap Eureka AI that helps you search prior art, draft patents, and assess FTO risks, powered by patent and scientific literature data.

40 results about "Clinical screening" patented technology

Multi-modal medical image segmentation method and device, computer device and storage medium

The application discloses a kind of multi-modal medical image segmentation method, device, computer equipment and storage medium, comprising: obtaining the multi-modal medical image of the same examinee and pre-processing and spatial registration;The target segmentation concept is standardized and analyzed to generate prompt;Using basic segmentation model obtains multiple candidate segmentation results of each modality;Constitute credibility gating model, assess the credibility score of each candidate result and carry out screening, obtain the credible instance of each modality;Establish the corresponding relationship between cross-modal credible instance to form instance group;Each instance group is executed evidence weighted fusion and conflict resolution, and the final segmentation result of each target is obtained;Output multi-instance segmentation result and corresponding instance-level uncertainty index.The application can effectively reduce the false detection and result fluctuation of basic model in multi-modal image, improve the consistency and reliability of cross-modal segmentation, and provide robust segmentation result for clinical screening.
Owner:ANHUI MEDICAL UNIV

Direct counting method and device for detecting number of fluorescence-labeled rare abnormal cells in blood sample

The invention discloses a direct counting method and device for detecting the number of fluorescence-labeled rare abnormal cells in a blood sample. Aiming at the problem that direct counting of low-abundance cells is difficult to realize in a conventional blood container by a traditional detection means, the method realizes rapid and direct counting of rare abnormal cells by performing narrow-band filtering, efficient collection and high signal-to-noise ratio detection on a fluorescence signal emitted by a static blood sample. The device comprises a lighting source module, an exciting light and emitted light narrow-band filtering module, a light beam collimation and beam expansion module, a sample bearing module, an emitted light collection and detection module and a data processing and counting module. Accurate counting of the extremely-low-abundance fluorescence labeling abnormal cells can be completed in a conventional transparent container without flow sorting or complex treatment of a blood sample, and the method has the advantages of being easy and convenient to operate, high in detection speed, suitable for clinical screening and the like.
Owner:HUNAN UNIV

Multi-task behavior-electroencephalogram synchronous monitoring method for schizophrenia screening

PendingCN122272021AEeg synchronizationDiscriminant model
This invention discloses a multi-task behavioral-EEG synchronous monitoring method for schizophrenia screening, relating to the field of schizophrenia screening. The method includes: designing a multi-task temporal loading paradigm based on clinical screening needs; simultaneously collecting EEG signals and behavioral data of subjects during the execution of the multi-task temporal loading paradigm, and preprocessing the collected raw data; extracting multidimensional features from the preprocessed data, wherein the multidimensional features include EEG feature groups, behavioral feature groups, and time-varying feature groups; constructing a multimodal fusion discriminant model, inputting the multidimensional features into the multimodal fusion discriminant model, and outputting a baseline risk probability and a schizophrenia risk index. The advantages of this invention are: achieving efficient, accurate, and objective screening of the core cognitive dimensions of schizophrenia, effectively improving the sensitivity and specificity of screening.
Owner:JIANGXI PROVINCIAL MENTAL HOSPITAL

Truncated mutant of ankrd11 and use thereof

PendingCN122104722AMicrobiological testing/measurementFermentationDiseasePrenatal diagnosis
The application belongs to the technical field of biology, and specifically discloses a truncated mutant of ANKRD11 and application thereof. The ANKRD11 gene mutant is any one of the following: a nucleic acid, wherein the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 1910 to No. 1913 are deleted; a polypeptide, wherein the polypeptide has a p.K637Tfs*15 mutation compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutant in screening of a KBG syndrome risk population. In the present disclosure, the pathogenic gene spectrum of the KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.
Owner:QINGDAO WOMEN & CHILDREN HOSPITAL

Multi-dimensional tumor marker joint detection device and use method thereof

The invention relates to the technical field of biomedical detection, in particular to a multi-dimensional tumor marker joint detection device and a using method thereof.The device comprises a sample processing module, a sequencing module, a marker extraction module, a feature fusion and detection module and a result output module, and 6 types of markers such as chromosome copy variation, microsatellite instability and the like are extracted respectively. The method comprises the following steps: collecting a body fluid sample to extract cfDNA, directly constructing a library without special treatment, obtaining effective data through whole genome sequencing, synchronously extracting six types of markers through each module of the device, optimizing an algorithm to adapt to low-depth data, inputting an integrated learning model to output a risk score, and finally outputting related information by a result output module. The method does not need special experimental treatment, realizes low-cost and high-accuracy joint detection, and meets the clinical large-scale screening requirements.
Owner:SUZHOU HONGYUAN BIOTECH CO LTD

Fabi enzyme inhibitor and use thereof

The present application discloses a FabI enzyme inhibitor and use thereof. The FabI enzyme inhibitor is a compound as represented by Formula I, provides a new option for clinical screening and / or preparation of drugs for the treatment of diseases associated with FabI enzyme activity.
Owner:GUANGZHOU BAIYUNSHAN PHARMA HLDG CO LTD BAIYUNSHAN PHARMA GENERAL FACTORY

Portable intelligent auscultation instrument for internal arteriovenous fistula for hemodialysis

The invention discloses an internal arteriovenous fistula portable intelligent auscultation instrument for hemodialysis, and relates to the technical field of medical equipment. An alarm, three auscultation result indicating lamps with different colors, an equipment switch and an electric quantity indicating lamp are arranged on the auscultation instrument main machine, an equipment power supply, a control module, a wireless data transmission module and an AI noise recognition chip are arranged in the auscultation instrument main machine, and an auscultation head and a conduction tube are arranged on the outer side of the auscultation instrument main machine. And an auxiliary fixing mechanism is arranged on the stethoscope head. A noise reduction acoustic filter screen is arranged in the auscultation head to accurately filter interference, a signal amplification module at the tail end of a conduction tube amplifies weak blood flow sound, an AI noise recognition chip with a clinical noise spectrum pre-recorded is matched, the internal fistula noise state can be automatically recognized without depending on professional auscultation experience, visual feedback is achieved through a three-color auscultation result indicator lamp, linkage early warning is matched with an alarm, and the internal fistula noise state can be automatically recognized. Common medical care can quickly complete clinical screening, and a patient can also perform self-examination at home, so that the risks of missed judgment and misjudgment are thoroughly avoided.
Owner:THE NAVAL MEDICAL UNIV OF PLA

Gastrointestinal tract tumor early screening and auxiliary diagnosis interaction system

The invention discloses a gastrointestinal tumor early screening and auxiliary diagnosis interaction system, belongs to the technical field of gastrointestinal tumor auxiliary diagnosis, and solves the technical problem of low accuracy of an existing artificial intelligence screening method. The system comprises: a risk prediction model module, which takes a structured test index of a patient as an input, and adopts an integrated learning and stacking generalization strategy to output a risk probability that the patient suffers from gastrointestinal tumors; the clinical dialogue interaction module is used for providing a doctor-patient question and answer interface and allowing doctors to interact with the clinical dialogue interaction module in a dialogue mode so as to obtain auxiliary diagnosis suggestions, disease interpretation and health propaganda and education content given by the clinical dialogue interaction module according to the risk probability; and the standardized patient simulation evaluation module is used for constructing a simulated'standardized patient 'case according to historical medical records and evaluating the performance of the risk prediction model module and the clinical dialogue interaction module in the simulated clinical situation, and the system can greatly improve the clinical screening efficiency and the diagnosis accuracy.
Owner:GUANGDONG GENERAL HOSPITAL

A method for detecting urine small extracellular vesicle PLA2R1 membrane protein for distinguishing membranous nephropathy

The application discloses a urine small extracellular vesicle PLA2R1 membrane protein detection method for distinguishing membranous nephropathy, and belongs to the technical field of biomedical detection. The detection method comprises the following steps: preparing an anti-CD63 antibody surface fixed plasmonic metasurface sensing chip to directly capture small extracellular vesicles in urine; preparing an anti-PLA2R1 antibody modified biofunctionalized gold nanoparticle complex to specifically combine with the PLA2R1 membrane protein on the surface of the small extracellular vesicles; detecting the reflection spectrum of the chip after antibody fixation and gold nanoparticle combination through a spectrometer with an integrated optical fiber probe; calculating the resonance wavelength shift amount; measuring the expression level of the PLA2R1 membrane protein; and realizing accurate distinction of healthy people, membranous nephropathy gray area and confirmed patients. The non-invasive detection method is simple in operation and rapid in detection, the sensitivity and the specificity are improved by means of the gold nanoparticle signal amplification effect, and is suitable for large-scale clinical screening and early diagnosis.
Owner:XIAMEN UNIV

Skin pricking liquid for allergy detection in safflower injection as well as preparation method and kit of skin pricking liquid

The invention discloses a preparation method of a skin pricking liquid for allergy detection in a safflower injection preparation, and provides an efficient screening method of allergens in the safflower injection preparation and a preparation method of an allergen skin pricking liquid in order to solve the problems that chemical components in the safflower injection preparation are complex, sensitization components are not clear and the like. According to the method, chemical components in the safflower injection preparation are rapidly clarified by adopting a high performance liquid chromatography-mass spectrometry technology; carrying out molecular docking on the identified chemical components, human serum albumin, MRGPRX2 protein and RhoA protein by using a molecular docking technology, and screening out compounds combined with the proteins; further performing allergen evaluation and confirmation on the compound screened by the molecular docking technology by using a surface plasmon resonance instrument; according to the SPR technology, it is confirmed that the safflower injection preparation allergen is prepared into skin pricking liquid which is used for clinically screening safflower injection preparation potential allergy people, and the purpose of greatly reducing the allergy occurrence rate is achieved.
Owner:SHANXI DEYUANTANG PHARM CO LTD

Lipid metabolite combination for early diagnosis marker of vkh and application thereof

PendingCN122449015ALipidomeMetabolite
The present application relates to the technical field of biological medicine, in particular to a lipid metabolite combination for early diagnosis of VKH and application thereof, by obtaining plasma samples of patients with initial acute stage (early stage) VKH syndrome and healthy controls, and constructing sample-full lipid quantitative expression matrix, screening differential lipids through PCA unsupervised analysis and OPLS-DA supervised model, further screening lipids with high diagnostic performance by using elastic net logistic regression model, finally obtaining a diagnostic marker combination composed of 25 lipid metabolites, solving the technical problems of existing VKH diagnosis technology, such as invasiveness, insufficient sensitivity and stability of protein marker detection, limited diagnostic efficiency, lack of systematicness and standardized process in lipidomics research, achieving the effect of non-invasive, efficient, high sensitivity and high specificity of early auxiliary diagnosis of VKH syndrome, and providing objective and reliable technical means for precise identification of atypical cases and large-scale clinical screening.
Owner:THE FIRST AFFILIATED HOSPITAL OF CHONGQING MEDICAL UNIVERSITY

Novel mutations in ankrd11 and uses thereof

This invention belongs to the field of biotechnology, specifically disclosing novel mutations of ANKRD11 and their applications. The ANKRD11 gene mutation can be any of the following: a nucleic acid having a target fragment, wherein the target fragment has a G repeat at position 4708 compared to the wild-type ANKRD11 gene with sequence SEQ ID NO.1; or a polypeptide having the p.E1570Gfs*71 mutation compared to the wild-type protein encoded by the ANKRD11 gene with sequence SEQ ID NO.2. The invention also relates to the application of reagents for detecting the aforementioned ANKRD11 gene mutation in screening individuals at risk for KBG syndrome. This disclosure broadens the pathogenic gene spectrum of KBG syndrome, enhances the understanding of the disease, provides experience for clinical screening and diagnosis of the disease, and also provides a basis for prenatal diagnosis.
Owner:QINGDAO WOMEN & CHILDREN HOSPITAL

A morphology-adaptive and feature-decoupled network method for medical image segmentation

This invention discloses a morphological adaptive and feature decoupling network method for medical image segmentation. Addressing the technical challenges of segmenting small medical lesions, this invention achieves high-precision and robust segmentation results through the collaborative design of a morphological adaptive ResNeXt module and a context-details decoupling module. The heterogeneous dual-stream architecture of the context-details decoupling module achieves explicit decoupling of semantic context and high-frequency details. Combined with large-kernel spatial gating and global residual connections, it effectively filters background noise, prevents weak features from being overwhelmed, and significantly improves the detection rate of small lesions. The morphological adaptive ResNeXt module's fully grouped geometric alignment strategy configures dedicated offsets and modulation scalars for each semantic subspace, suppressing deformation drift and allowing the receptive field to adaptively fit the complex, non-rigid boundaries of the lesion, eliminating edge jaggedness and providing reliable computer-aided support for clinical screening of small medical lesions.
Owner:CHINA THREE GORGES UNIV

Polymerized antigen construct for rapid immunodetection

PendingCN121609808ABiological testingHybrid peptidesSyphilisRabies
The invention relates to an antigen construct for rapid immune detection, in particular to an antigen molecule for realizing dimerization or trimerization through foldon or a variant thereof. The antigen construct can enhance the conformation stability and improve the antibody binding efficiency, so that the sensitivity and shelf life stability in colloidal gold, fluorescent microspheres, ELISA (enzyme-linked immuno sorbent assay) and other in-vitro diagnosis methods in immunochromatography are remarkably improved. The construct is suitable for antibody detection of rabies, influenza, coronavirus, Brucella, tuberculosis and the like in zoonosis and HIV, HBV, HCV, syphilis and the like in human infectious diseases, and can be widely applied to clinical screening, animal quarantine, family self-test and public health emergency monitoring.
Owner:QIYAO BIOTECHNOLOGY (NANTONG) BIOTECHNOLOGY CO LTD

Pancreatic cancer risk prediction model optimization method based on metabolic syndrome data

The invention relates to the technical field of medical artificial intelligence and disease risk prediction, and discloses a pancreatic cancer risk prediction model optimization method based on metabolic syndrome data, and the method comprises the steps: a training stage: obtaining historical clinical data of five physiological abnormalities of a sample individual, carrying out the grading assignment of the historical clinical data based on a metabolic syndrome diagnosis standard, and carrying out the prediction of a pancreatic cancer risk prediction model; in the application stage, the clinical data of a target individual are subjected to same preprocessing and feature engineering and input into the risk prediction model, and the risk prediction model is obtained by combining a pancreatic cancer diagnosis tag and training a logistic regression model through a maximum likelihood estimation method. And calculating to obtain a pancreatic cancer risk assessment result of the target individual. According to the method, data modeling is carried out by innovatively integrating metabolic syndrome data and diabetes disease course information, accurate and early individualized prediction of the pancreatic cancer risk is realized, and an effective tool is provided for clinical screening and intervention.
Owner:GUANGDONG GENERAL HOSPITAL

JAK3 inhibitor

The invention discloses a JAK3 kinase inhibitor compound and application thereof, and particularly discloses a compound shown as a formula IA, or application of a stereoisomer or pharmaceutically acceptable salt of the compound in preparation of JAK3 kinase inhibitor drugs. A new choice is provided for clinical screening and / or preparation of drugs for treating diseases related to the activity of the JAK3 kinase inhibitor.
Owner:HITGEN INC

An interpretable craniomaxillofacial rare disease diagnosis model, a diagnosis method and an electronic device

This invention discloses an interpretable diagnostic model, method, and electronic device for rare craniofacial diseases. The model includes a medical vision-language feature encoding network, a supervised hierarchical contrastive learning module, a KL regularized progressive unfreezing module, and an interpretable diagnostic output module. First, image-text pairs are constructed. By introducing disease semantic priors, an adaptive soft-boundary contrastive learning loss function is built, which tolerates visual overlap while preserving the feature manifold topology of phenotypic similar diseases. Second, KL divergence is used to monitor the drift of feature distribution between layers, and progressive unfreezing of the model is achieved through trust domain constraints. This invention effectively avoids catastrophic forgetting during model fine-tuning, improving the diagnostic accuracy of rare craniofacial diseases while outputting interpretable attention heatmaps and facial feature descriptions that are precisely aligned with pathological features, providing an efficient and reliable technical solution for early clinical screening and assisted diagnosis.
Owner:HARBIN INSTITUTE OF TECHNOLOGY (SHENZHEN) (INSTITUTE OF SCIENCE AND TECHNOLOGY INNOVATION HARBIN INSTITUTE OF TECHNOLOGY SHENZHEN)

Preparation method of double-ligand peptide / UiO-66-NH2-coated AYG fluorescent probe

The invention belongs to the technical field of biomedicine detection, and provides a preparation method of a double-ligand peptide / UiO-66-NH2-atAYG fluorescent probe and application of the double-ligand peptide / UiO-66-NH2-atAYG fluorescent probe in CA153 detection.The fluorescent probe has the advantages of being high in sensitivity and specificity, good in stability, low in cost, easy and convenient to operate and the like, can meet the requirement for precise detection of trace CA153, and has a good application prospect. The method is especially suitable for primary medical institutions and large-scale clinical screening.
Owner:JIANGSU OCEAN UNIV

Application of sEVs membrane protein detection in breast cancer drug resistance early warning products

The application discloses application of sEVs membrane protein detection in a breast cancer drug resistance early warning product and belongs to the field of biomedicine. A plurality of sEVs membrane proteins associated with breast cancer drug resistance are selected to form a combined marker, which can effectively improve detection accuracy. Antibodies, primers and probes designed according to the application, combined with a "four-layer cascade amplification + multi-target joint analysis" design, can complete four rounds of signal amplification, effectively break through the limitations of traditional single-target detection methods, significantly improve detection sensitivity, shorten detection time and reduce detection cost, and provide a possibility for large-scale clinical screening.
Owner:JIANGNAN UNIV

Method for detecting cervical lesion cast-off cells or masses based on YOLOv10 network model

The invention discloses a cervical lesion cast-off cell or mass detection method based on a YOLOv10 network model, and relates to the technical field of artificial intelligence and medical image processing. According to the method, the detection capability of multi-scale targets is enhanced, the features of cells of different sizes can be captured at the same time through a simplified global pooling information extraction module, and the recognition robustness of pathological cells of different shapes and sizes is remarkably improved; through a multi-scale space attention module guided by a channel, key features are dynamically enhanced, background interference is inhibited, the features of overlapped cells are effectively'decoupled ', and the missing detection rate and the false detection rate in a dense area are remarkably reduced; core modules of the model all adopt lightweight design, the detection performance is improved on the premise that the calculation cost and the parameter quantity are not remarkably increased, and the method is suitable for clinical screening scenes needing high-throughput processing and has clinical popularization potential.
Owner:CHONGQING UNIV OF TECH +1

A colorectal tumor risk assessment system based on gut microbiota data

PendingCN122314396AColorectal tumorMedicine
This invention relates to the field of health risk assessment technology, specifically a colorectal cancer risk assessment system based on gut microbiota data. It includes obtaining abundance ranking data by acquiring the proportion of each bacterial genera through 16S sequencing, extracting the direction of change of functional bacterial genera in adjacent periods and labeling abnormal categories, statistically analyzing the trend interruption of key bacterial genera, dividing risk intervals by combining the number of functional direction changes and the number of trend interruptions, and mapping these to screening grading to generate colorectal cancer risk assessment results. This invention constructs a relative abundance ranking structure of bacterial genera through sequencing fragment proportions, establishes a change direction comparison between consecutive testing periods, extracts the unidirectional and inverse characteristics of metabolically related bacterial genera, combines the number of community trend interruptions to form a combined judgment criterion, constructs stratified risk intervals and corresponds to clinical screening categories, so that risk assessment takes into account both functional pathway shifts and differences in community stability.
Owner:GUANGZHOU FIRST PEOPLES HOSPITAL (GUANGZHOU DIGESTIVE DISEASE CENT GUANGZHOU FIRST PEOPLES HOSPITAL GUANGZHOU MEDICAL UNIV THE SECOND AFFILIATED HOSPITAL OF SOUTH CHINA UNIV OF TECH)

Application of chlorpyrifos and paraquat in preparation of abdominal obesity diagnosis product

The invention relates to the field of environmental exposure omics and metabolic diseases, in particular to application of chlorpyrifos and paraquat in preparation of an abdominal obesity diagnosis product. The abdominal fat area, the A / S ratio, the liver fat content and other indexes measured through quantitative computed tomography (qCT) are combined, accurate recognition of abdominal obesity is achieved, the subjects with the normal body mass index (BMI) and visceral fat exceeding the standard can be effectively recognized, and the method has the advantages of being high in sensitivity, high in specificity and good in diagnosis foresight and has good application prospects. A new scheme is provided for early risk assessment and clinical screening of abdominal obesity, the significant correlation between the high exposure level of chlorpyrifos and paraquat and abdominal obesity supports the hypothesis that environmental endocrine disruptors promote obesity through metabolism interference, the urine concentration of chlorpyrifos and paraquat can be used as a novel biomarker, and the application prospect is broad. And a potential tool is provided for early screening of abdominal obesity.
Owner:马培旗

Application of long-chain non-coding RNA MYLK-AS1 as a biomarker in preparation of a diagnostic or prognostic kit for acute myeloid leukemia

The application discloses application of long-chain non-coding RNA MYLK-AS1 as a biomarker in preparation of a kit for diagnosis or prognosis of acute myeloid leukemia. The application aims to provide a marker for diagnosis and / or prognosis of acute myeloid leukemia and a target point for treatment. The application discloses application of LncRNA-MYLK-AS1 as a biomarker in preparation of a kit for diagnosis and / or prognosis of acute myeloid leukemia, and the gene of the LncRNA-MYLK-AS1 is shown as SEQ ID NO. 1. The LncRNA-MYLK-AS1 provided by the application has the advantages of simple operation, accurate detection, and suitability for clinical screening, and provides more information for diagnosis and prognosis of AML, and lays a foundation for targeted treatment of AML.
Owner:CHINESE PEOPLES LIBERATION ARMY KET FORCE CHARACTERISTIC MEDICAL CENT

An artificial intelligence system for non-invasive prediction of EGFR / TP53 co-mutated lung cancer patients

This invention provides a non-invasive artificial intelligence system for predicting EGFR / TP53 co-mutated lung cancer patients, belonging to the field of lung cancer prediction systems. By collecting patients' clinical and imaging characteristics, and using LASSO feature selection and a random forest classifier to build a model, this invention obtains an artificial intelligence prediction system capable of accurately and non-invasively predicting EGFR / TP53 gene co-mutation status in lung cancer patients. Experimental results show that the artificial intelligence prediction system established in this invention has superior predictive performance for EGFR / TP53 gene co-mutation status in lung cancer patients, with an AUC value as high as 0.746 on the test set. This artificial intelligence prediction system provides a new option for clinical screening of lung cancer patients with EGFR+ / TP53+ co-mutations, as well as screening EGFR-mutant lung cancer patients resistant to TKIs, and has important guiding significance for the precise clinical treatment of EGFR / TP53 co-mutated lung cancer patients.
Owner:WEST CHINA HOSPITAL SICHUAN UNIV

Intermittent external strabismus early screening device for ophthalmology department

The invention relates to the technical field of strabismus detection, in particular to an ophthalmic intermittent external strabismus early screening device which comprises a gaze analysis module, a direction analysis module, a drift correction module, a screening calculation module and a result optimization module. According to the method, the eyeball displacement sequence in the watching process of the two eyes is collected, the direction distribution density of the displacement difference vector is analyzed, the tiny change of the eyeball movement is accurately captured, the eye position offset can be analyzed more finely, and the stability attenuation of the eyeball movement is revealed based on the direction set center coordinate and the density center transfer rate calculation and comparison. Abnormal signals are marked, the precision of early-stage abnormality discovery is improved, drift in an eyeball movement rule is corrected, a balance point is generated through probability correction, the situation of missed diagnosis is avoided, continuous deviation with poor convergence is analyzed, eye position changes are dynamically reconstructed, early-stage external strabismus is accurately judged, and technical means are combined, so that the precision of early-stage screening is greatly improved. And an accurate auxiliary judgment basis is provided for clinical screening.
Owner:BEIJING TONGREN HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV

Novel mutations in ankrin repeat domain containing 11 associated with KBG syndrome and uses thereof

PendingCN122256365AMicrobiological testing/measurementFermentationDiseasePrenatal diagnosis
The application belongs to the technical field of biology, and specifically discloses a new mutation of ANKRD11 related to KBG syndrome and application thereof. The ANKRD11 gene mutation is any one of the following: a nucleic acid, the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 6281 to No. 6282 are deleted; a polypeptide, compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2, has a p.L2095Gfs*6 mutation. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutation in screening of a KBG syndrome risk population. In the disclosure, the pathogenic gene spectrum of KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.
Owner:QINGDAO WOMEN & CHILDREN HOSPITAL

An exosome-based tumor diagnosis kit and application thereof

This invention discloses an exosome-based tumor diagnostic kit and its applications, relating to the fields of medical laboratory science and molecular diagnostics. The kit includes: exosome isolation components; exosome lysis and nucleic acid extraction components; internal standard and quantitative control components; reverse transcription components; molecular detection components; protein detection components; and interpretation and analysis components. This invention achieves complementary fusion of nucleic acid and protein information by simultaneously detecting exosome nucleic acid markers and exosome-derived protein markers from the same blood sample and employing a pre-defined normalization and weighted interpretation algorithm. This fusion strategy overcomes the problem of decreased sensitivity or specificity caused by biological heterogeneity or sample batch variations of single markers, making the identification of early or minor lesions more robust. Simultaneously, through synergistic interpretation among multiple markers, false positive signals originating from benign diseases or physiological fluctuations can be effectively suppressed, thereby improving the reliability of clinical screening and diagnosis.
Owner:SOUTHWEST UNIV

Intelligent screening system for adolescent scoliosis based on AI posture analysis

The application discloses a youth scoliosis intelligent screening system based on AI posture analysis, and belongs to the technical field of medical health, comprising a posture sensing module, a three-dimensional reconstruction module, a multi-modal data fusion module, a double-engine decision module, a core function module and a compliance privacy protection module, which is used for collecting youth posture data and extracting spine-related anatomical landmark points, realizing high-precision positioning, based on the positioning data output by the posture sensing module, non-invasively reconstructing the three-dimensional curvature of the spine and calculating key clinical indicators, integrating at least two types of heterogeneous data, generating a dynamic evaluation matrix for risk assessment, and outputting the scoliosis risk level and treatment suggestions based on the dynamic evaluation matrix. The application adopts a mobile phone camera + AI algorithm (improved YOLOv8, multi-modal fusion, etc.) and a three-dimensional spine curvature reconstruction algorithm, breaks away from hardware dependence, meets the needs of clinical screening, only needs mobile phone operation, has a very low threshold, does not need professional training, can be operated anytime and anywhere, and has high convenience.
Owner:WUXI TAIHU UNIV

Clinical-grade organoids

This specification discloses improved methods for expanding cell populations and for producing organoids from pluripotent stem cells, as well as compositions and their uses, compositions comprising amino acid supplementation liquid components that can be used to carry out the Method, and kits comprising components for carrying out the Method and / or for using the products of the Method. These methods can be carried out without requiring heterogeneous and undefined basement membrane matrices for cell culture, thereby enabling a Good Manufacturing Practice (GMP) compliant approach to producing organoids for various uses, such as clinical screening and therapy, including methods for treating liver-related diseases or disorders and methods for screening candidate compounds or compositions for treating them.
Owner:CHILDRENS HOSPITAL MEDICAL CENT CINCINNATI