13 results about "Down syndrome" patented technology

The application discloses a Down syndrome facial deformity classification method based on structure perception heat map and focused selective convolution. The technical scheme comprises the following steps: a structure perception attribute (SPA) module generates a structure mask by using facial key points and uses the structure mask as a semantic prompt to compensate for the lack of spatial perception of traditional CNN and CLIP; an abnormality detection region alignment (ADRA) module introduces an adapter on multi-level features and combines a zero sample / less sample double branch to strengthen the feature alignment of weak supervision and low contrast regions; and a selective feature extraction and classification (SFEC) module performs channel normalization and threshold clipping on the heat map, and uses fast / slow branch selective convolution to improve the discrimination and reduce redundant calculation. The method still maintains stable accuracy under changes in shooting distance and posture, significantly improves the accuracy and F1 of the existing method on the Down syndrome and facial paralysis data sets, and is suitable for early screening, objective evaluation and follow-up monitoring in clinical practice, especially for automatic diagnosis assistance in resource-limited scenarios.

Methods for detecting a Group of Biomarkers is provided herein. The translation profile of the Group of Biomarkers can be used for determining whether a subject, such as a fetus, has Down syndrome The methods include detecting one or more specific groups of biomarkers in a biological sample, and determining whether the expression of the biomarkers is altered when compared to expression of the biomarkers in one or more subjects that do not have trisomy 21 (e.g., a transcriptional standard). The biological sample can be a blood sample, and the biomarkers are cell free plasma RNAs.

Provided are a composition for diagnosing Down syndrome, a kit including the composition, a diagnostic method, and a method of providing information for diagnosing Down syndrome, the composition including an agent for measuring a methylation level of any one gene selected from the group consisting of MXRA8, MIB2, KIF26B, SP5, ZIC4, ENPEP, PITX2, SH3BP2, SEPP1, FLJ32255, SHROOM1, LINC00574, LOC154449, PRRT4, TMEM176B, MNX1, LOC101928483, EGFL7, NACC2, C9orf69, TLX1, FGF8, TACC2, CPXM2, NKX6-2, TLX1NB, IQSEC3, PCDH8, F7, SOX9, PNMAL2, THBD, MAPK8IP2, KLHDC7B, GPR143, IGHMBP2, MRGPRD, CHODL, NCAM2, CYYR1, GRIK1, OLIG2, CLIC6, SIM2, HLCS, MX2, MX1, TMPRSS2, SLC37A1, PDE9A, CBS, CRYAA, C21orf2, TRPM2, TSPEAR, LINC00162, SSR4P1, SLC19A1, LOC100129027, MCM3AP, YBEY, PRMT2, and ITSN1. Thus, Down syndrome can be diagnosed early with high accuracy, and the disclosure is expected to be applied as key a technology in the field of Down syndrome diagnosis.

The invention relates to the field of molecular biology, in particular to Down's syndrome induced pluripotent stem cells as well as a construction method and application thereof. Four transcription factor reprogramming methods of KLF4, OCT4, c-MYC and SOX2 are utilized to construct Down's syndrome induced pluripotent stem cells, an expression profile of non-coding RNA in derived exosomes of the Down's syndrome induced pluripotent stem cells is systematically analyzed, differentially expressed non-coding RNA is screened, an RT-ddPCR technology is further adopted to analyze the expression condition of the differentially expressed non-coding RNA in maternal peripheral blood, and the DDown's syndrome induced pluripotent stem cells are obtained. And new information is provided for screening of novel markers for antenatal diagnosis of Down's syndrome and establishment of a detection method.

Composition for use in the prevention and / or in the treatment of intellectual disability and neurodegenerative diseases in a subject with Down syndrome, wherein the composition comprises as an active agent at least one compound belonging to the class of dipeptidyl-peptidase IV (DPP4) enzyme inhibitors and also to the class of gliptins.

Provided herein are compounds, compositions, and methods for lowering expression levels of runt-related transcription factor 1 (RUNX1) in a cell, tissue or animal. Further provided are methods of improving memory and cognitive functioning in individuals with Down syndrome (DS) using an antisense compound targeted to a RUNX1 nucleic acid. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders. Further provided are methods of decreasing inflammation and slowing cognitive decline in individuals with dementia.

The present invention provides an EEG based identification method & enhancement of neurodiverse, neurotypical individual's or any person's brain abilities 4 to increase the learning capabilities and skills of an individual, including those with neurodiverse conditions such as autism, ADHD, Down syndrome, etc.; and also diagnose ADHD, Down syndrome, and other neurodiverse conditions. The present invention works on identifying the strength 4(c) and the best mode of learning method 4(b) for each individual's assessments using an EEG Band 1(b). Present invention helps teacher create a curriculum specific learning approach 3 to the student and the group approach. The said method provides SaaS platform that uses neuroscience and AI-based recommendations to guide teachers and parents on which topic can be taught using what mode while also providing direct access to techniques such as interactive or video methods 4(b) to help students learn faster.

Disclosed is a method for treating for treating pathologies associated with Down syndrome (e.g., symptoms of Alzheimer's disease and metabolic abnormalities), preventing the onset of pathologies associated with Down syndrome in patients with Down syndrome, reducing cognitive or functional decline, or reducing symptom load in a subject having Down Syndrome, in need or at risk thereof, comprising administering to said subject a therapeutically effective amount of an anti-Follicle Stimulating Hormone (FSH) antibody, or an antigen-binding portion thereof.

The application belongs to the field of biological medicine, and relates to a B2M-GluN1 blocking peptide, a pharmaceutical composition thereof and purposes. Specifically, the application relates to an isolated polypeptide which is a polypeptide shown in SEQ ID NO: 8 or a truncated fragment of the polypeptide shown in SEQ ID NO: 8. The isolated polypeptide of the application can effectively treat or prevent Down syndrome, Alzheimer's disease or cognitive impairment caused by Down syndrome or Alzheimer's disease, and has a good application prospect.

This application belongs to the technical field of medical screening methods, specifically relating to a Transformer-based method, apparatus, device, and storage medium for Down syndrome screening. The method includes: inputting a chromosome image for screening into a preset Transformer segmentation model to segment individual chromosomes in the chromosome image, obtaining chromosome sub-blocks; the Transformer segmentation model is a Two-Stage structure model; aligning the chromosome sub-blocks to obtain individual chromosome images; inputting the individual chromosome images into a preset Transformer classification model to perform classification prediction on the individual chromosome images, obtaining predicted classification results; and performing chromosome screening based on the predicted classification results to obtain chromosome indication results. This addresses the problem of low screening efficiency.