Diagnostic and prognostic test for sturge-weber syndrome, klippel-trenaunay-weber syndrome, and port-wine stains (PWSS)

    公开(公告)号:US10544461B2

    公开(公告)日:2020-01-28

    申请号:US14784720

    申请日:2014-04-16

    IPC分类号: C12Q1/68 C12Q1/6883

    摘要: The present invention relates to the fields of neurological and skin disorders. More specifically, the present invention provides methods and compositions for diagnosing and prognosing Sturge-Weber Syndrome (SWS), Klippel-Trenaunay-Weber Syndrome (KTWS), and Port Wine Stains (PWS). In one embodiment, a method for prognosing or monitoring treatment of a patient with SWS, KTWS and/or PWS comprises the steps of (a) providing a sample from the patient undergoing treatment; (b) determining the number of alleles in the sample comprising at least one activating somatic mutation in the guanine nucleotide-binding protein G subunit alpha (GNAQ) gene or protein; (c) comparing the number of alleles comprising the at least one somatic mutation to the number of alleles comprising the somatic mutation from a patient sample provided prior to undergoing treatment; and (d) determining that the patient is improving if there is a decrease in the number of alleles comprising the at least one somatic mutation from the sample of step (a).

    MAGNETIC RESONANCE IMAGING OF GLYCOGEN AND OTHER POLYSACCHARIDES BY MAGNETIC COUPLING WITH WATER

    公开(公告)号:US20230408611A1

    公开(公告)日:2023-12-21

    申请号:US18037726

    申请日:2021-11-19

    IPC分类号: G01R33/48

    CPC分类号: G01R33/4828

    摘要: Some embodiments provide a method for magnetic resonance imaging of polysaccharide molecules, that includes providing a magnetic field that is sufficiently homogeneous over an imaging volume, generating a spatial encoding in the magnetic field, and acquiring one or more water proton signal intensity measurements at each of multiple voxels within the imaging volume. The signal intensity measurements are acquired at one or more irradiation frequencies at lower parts-per-million (ppm) than a baseline frequency associated with free water protons. The method includes generating, based on the water proton signal intensity measurements in each voxel, a water proton signal intensity map of the relayed Nuclear Overhauser Effect (rNOE) exchange process of aliphatic protons in the polysaccharide molecules to free water protons in the imaging volume, and generating, using a calibration of the water proton signal intensity measurements for the rNOE exchange process, a concentration map of the polysaccharide molecules in the imaging volume.