Search results for "Lyso-"
showing 10 items of 18 documents
Biomarkers in Anderson–Fabry Disease
2020
Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical practice as a screening tool, in the context of the diagnostic process and as an indicator of response to treatment. An interesting field of application of such biomarkers is the management of female heterozygotes who present difficulty in predictable clinical progression. This revi…
Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review
2023
Abstract Background Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fresh peripheral blood leukocytes or dried blood spots, and confirmed by identifying characteristic mutations in the GBA1 gene. Currently, several biomarkers are available for disease monitoring. Chitotriosidase has been used over the last 20 years to assess the severity of GD, but lacks specificity in GD patients. Conversely, the deacylated form of glucosylceramide, glucosylsphingosine (also known as lyso-Gb1), represents a more reliable biomarker ch…
Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene
2012
Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…
First Compton telescope prototype based on continuous LaBr3-SiPM detectors
2013
Abstract A first prototype of a Compton camera based on continuous scintillator crystals coupled to silicon photomultiplier (SiPM) arrays has been successfully developed and operated. The prototype is made of two detector planes. The first detector is made of a continuous 16×18×5 mm 3 LaBr 3 crystal coupled to a 16-elements SiPM array. The elements have a size of 3×3 mm 3 in a 4.5×4.05 mm 2 pitch. The second detector, selected by availability, consists of a continuous 16×18×5 mm 3 LYSO crystal coupled to a similar SiPM array. The SPIROC1 ASIC is employed in the readout electronics. Data have been taken with a 22 Na source placed at different positions and images have been reconstructed with…
High performance detector head for PET and PET/MR with continuous crystals and SiPMs
2012
International audience; A high resolution PET detector head for small animal PET applications has been developed. The detector is composed of a 12 mm x 12 mm source continuous LYSO crystal coupled to a 64-channel monolithic SiPM matrix from FBK-irst. Crystal thicknesses of 5 mm and 10 mm have been tested, both yielding an intrinsic spatial resolution around 0.7 mm FWHM with a position determination algorithm that can also provide depth-of-interaction information. The detectors have been tested in a rotating system that makes it possible to acquire tomographic data and reconstruct images of 22Na sources. An image reconstruction method specifically adapted for continuous crystals has been emp…
Time of flight measurements based on FPGA using a breast dedicated PET
2014
In this work the implementation of a Time-to-Digital Converter (TDC) using a Nutt delay line FPGA-based and applied on a Positron Emission Tomography (PET) device is going to be presented in order to check the system’s suitability for Time of Flight (TOF) measurements. In recent years, FPGAs have shown great advantages for precise time measurements in PET. The architecture employed for these measurements is described in detail. The system developed was tested on a dedicated breast PET prototype, composed of LYSO crystals and Positive Sensitive Photomultipliers (PSPMTs). Two distinct experiments were carried out for this purpose. In the first test, system linearity was evaluated in order to …
Impact of the scattering coefficient of scintillation crystals (LYSO and LSO) on depth of interaction resolution
2008
Intrinsic parameters in scintillation crystals play a crucial role in the measured spatial and energy resolutions. In many cases the measurement of these intrinsic parameters is difficult to be carried out or even there are parameters that need a specific setup to be measured directly, e.g. the intrinsic light yield and the absorption and scattering coefficients. These uncertainties in the parametrization of the characteristics of the scintillation crystals make it quite difficult to evaluate the quality and characteristics of the scintillation crystals and their impact on the resolutions. Results of measurements of depth of interaction and its resolutions for three different scintillation …
Test and Simulation of a LYSO+APD matrix with a tagged Photon Beam from 40 to 300 MeV
2012
Understanding the energy resolution terms for LYSO based calorimeters with APD readout at low energy (< 500 MeV) is relevant both for the completion of the KLOE-2 experiment, at DAΦNE, and for the design of the Mu2e calorimeter. In this work, we present a dedicated comparison between experimental data, taken in 2011 at the MAMI tagged photon beam facility with a crystal matrix prototype, and a full Geant-4 simulation of this detector. The crystal prototype matrix consisted of 9 2×2 × 15 cm3 LYSO crystals read-out by 10×10 mm2 Hamamatsu avalanche photodiodes (APD) surrounded by 8 PbWO4 crystals read-out by Bialkali photomultipliers for outer leakage recovery granting a total transverse cover…
Silicon as an Unconventional Detector in Positron Emission Tomography.
2012
Positron emission tomography (PET) is a widely used technique in medical imaging and in studying small animal models of human disease. In the conventional approach, the 511 keV annihilation photons emitted from a patient or small animal are detected by a ring of scintillators such as LYSO read out by arrays of photodetectors. Although this has been a successful in achieving ~5mm FWHM spatial resolution in human studies and ~1mm resolution in dedicated small animal instruments, there is interest in significantly improving these figures. Silicon, although its stopping power is modest for 511 keV photons, offers a number of potential advantages over more conventional approaches. Foremost is it…
AX-PET: A novel PET concept with G-APD readout
2012
Abstract The AX-PET collaboration has developed a novel concept for high resolution PET imaging to overcome some of the performance limitations of classical PET cameras, in particular the compromise between spatial resolution and sensitivity introduced by the parallax error. The detector consists of an arrangement of long LYSO scintillating crystals axially oriented around the field of view together with arrays of wave length shifter strips orthogonal to the crystals. This matrix allows a precise 3D measurement of the photon interaction point. This is valid both for photoelectric absorption at 511 keV and for Compton scattering down to deposited energies of about 100 keV. Crystals and WLS s…