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https://www.readbyqxmd.com/read/28207759/investigations-on-therapeutic-glucocerebrosidases-through-paired-detection-with-fluorescent-activity-based-probes
#1
Wouter W Kallemeijn, Saskia Scheij, Sascha Hoogendoorn, Martin D Witte, Daniela Herrera Moro Chao, Cindy P A A van Roomen, Roelof Ottenhoff, Herman S Overkleeft, Rolf G Boot, Johannes M F G Aerts
Deficiency of glucocerebrosidase (GBA) causes Gaucher disease (GD). In the common non-neuronopathic GD type I variant, glucosylceramide accumulates primarily in the lysosomes of visceral macrophages. Supplementing storage cells with lacking enzyme is accomplished via chronic intravenous administration of recombinant GBA containing mannose-terminated N-linked glycans, mediating the selective uptake by macrophages expressing mannose-binding lectin(s). Two recombinant GBA preparations with distinct N-linked glycans are registered in Europe for treatment of type I GD: imiglucerase (Genzyme), contains predominantly Man(3) glycans, and velaglucerase (Shire PLC) Man(9) glycans...
2017: PloS One
https://www.readbyqxmd.com/read/28194070/intriguing-morphology-of-igg-lambda-secreting-myeloma-cells
#2
Sreejesh Sreedharanunni, Narender Kumar, Neelam Varma
Myeloma cells are known to show varied morphology and various types of nuclear or cytoplasmic inclusions. There are a few reports of myeloma with presence of pseudo-Gaucher type histiocytes; however myeloma cells itself resembling storage histiocytes is distinctly uncommon. We report images of plasma cells resembling storage cells from a case of IgG/lambda plasma cell myeloma. Hematopathologist must be aware of such varied morphology of plasma cells especially while dealing with extra medullary plasmacytomas...
March 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28190666/design-of-a-framework-for-the-deployment-of-collaborative-independent-rare-disease-centric-registries-gaucher-disease-registry-model
#3
Matthew I Bellgard, Kathryn R Napier, Alan H Bittles, Jeffrey Szer, Sue Fletcher, Nikolajs Zeps, Adam A Hunter, Jack Goldblatt
Orphan drug clinical trials often are adversely affected by a lack of high quality treatment efficacy data that can be reliably compared across large patient cohorts derived from multiple governmental and country jurisdictions. It is critical that these patient data be captured with limited corporate involvement. For some time, there have been calls to develop collaborative, non-proprietary, patient-centric registries for post-market surveillance of aspects related to orphan drug efficacy. There is an urgent need for the development and sustainable deployment of these 'independent' registries that can capture comprehensive clinical, genetic and therapeutic information on patients with rare diseases...
January 27, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28187999/intraobserver-and-interobserver-variability-of-the-bone-marrow-burden-bmb-score-for-the-assessment-of-disease-severity-in-gaucher-disease-possible-impact-of-reporting-experience
#4
Jeffrey K C Lai, Patricia L Robertson, Christine Goh, Jeff Szer
AIM: To evaluate the intraobserver and interobserver agreement for bone marrow burden (BMB) scores for individual examinations and for the change in BMB score over time in the same patient. METHODS: A total of 119 sets of MR images of the lumbar spine and femora from 60 patients with Gaucher disease were included. Each set of MR images was scored using the BMB score independently by two experienced MSK radiologists. One radiologist performed a second read four weeks later...
November 14, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28185830/children-with-type-1-gaucher-disease-changing-profiles-in-the-21st-century
#5
Deborah Elstein, Gheona Altarescu, Aya Abrahamov, Ari Zimran
Gaucher disease (GD) has phenotypic variability. Increased GD awareness especially among at-risk Ashkenazi Jews (AJ) and availability of non-invasive diagnosis induced trend to prenatal screening. We retrospectively assessed pediatric (<16years) Israeli AJ GD patients to ascertain demographics and phenotype at presentation and over-time because many were identified by large-scale screening. 55/67 patients born since 01/01/2000 are AJ with non-neuronopathic GD: 28 (50.9%) are N370S/N370S; 24 (43.6%) are N370S/other; 3 (3...
December 19, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28173573/letter-outpatient-cervical-and-lumbar-spine-surgery-is-feasible-and-safe-a-consecutive-single-center-series-of-1449-patients
#6
Sonia Gaucher, Samir Bouam, David Maladry, Jean-Pierre Bethoux, Henri-Jean Philippe
No abstract text is available yet for this article.
February 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28171725/fluorinated-chaperone-%C3%AE-cyclodextrin-formulations-for-%C3%AE-glucocerebrosidase-activity-enhancement-in-neuronopathic-gaucher-disease
#7
M Isabel Garcia-Moreno, Mario de la Mata, Elena Matilde Sánchez-Fernández, Juan M Benito, Antonio J Díaz-Quintana, Santos Fustero, Eiji Nanba, Katsumi Higaki, José A Sánchez Alcázar, José Manuel García Fernández, Carmen Ortiz Mellet
Amphiphilic glycomimetics encompassing a rigid, undistortable nor-tropane skeleton based on 1,6-anhydro-L-idonojirimycin and a polyfluorinated antenna, when formulated as the corresponding inclusion complexes with β-cyclodextrin (βCD), have been shown to behave as pharmacological chaperones (PCs) that efficiently rescue lysosomal β-glucocerebrosidase mutants associated to the neuronopathic variants of Gaucher disease (GD), including the highly refractory L444P/L444P and L444P/P415R single nucleotide polymorphs, in patient fibroblasts...
February 7, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28167660/eliglustat-maintains-long-term-clinical-stability-in-patients-with-gaucher-disease-type-1-stabilized-on-enzyme-therapy
#8
Timothy M Cox, Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow, Ana Maria Martins, Elena Lukina, Barry Rosenbloom, Ozlem Goker-Alpan, Nora Watman, Amal El-Beshlawy, Priya S Kishnani, Maria Lucia Pedroso, Sebastiaan J M Gaemers, Regina Tayag, M Judith Peterschmitt
In the phase 3 trial of eliglustat in patients with Gaucher disease type 1 already stabilized with enzyme therapy (ENCORE), at one year, eliglustat was non-inferior to imiglucerase enzyme therapy in maintaining stable platelet counts, hemoglobin concentrations, and spleen and liver volumes. After this primary analysis period, patients entered a long-term extension phase in which all received eliglustat. Duration on eliglustat ranged from 2 to 5 years, depending on timing of enrollment (which spanned 2 years), treatment group to which patients were randomized, and whether they lived in the United States when commercial eliglustat became available...
February 6, 2017: Blood
https://www.readbyqxmd.com/read/28166796/coenzyme-q10-partially-restores-pathological-alterations-in-a-macrophage-model-of-gaucher-disease
#9
Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M Suárez-Rivero, Gustavo Tiscornia, José A Sánchez-Alcázar
BACKGROUND: Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids glucosylceramide (GlcCer) and glucosylsphingosine in the lysosomes of macrophages. In this manuscript, we investigated the effects of glycolipids accumulation on lysosomal and mitochondrial function, inflammasome activation and efferocytosis capacity in a THP-1 macrophage model of Gaucher disease...
February 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28144704/gaucher-disease-in-the-liver-on-hepatocyte-specific-contrast-agent-enhanced-mr-imaging
#10
Rama S Ayyala, Lisa A Teot, Jeanette M Perez Rossello
Gaucher disease is a hereditary lipid storage disorder that affects the enzyme beta glucocerebrosidase, causing accumulation of glucocerebroside in macrophages of the reticuloendothelial system. Accumulation can occur in the liver and spleen, manifesting as hepatosplenomegaly, as well as within the bone marrow. Hepatic involvement is usually diffuse but can occasionally manifest as focal liver lesions. We present a case of a 2-year-old boy with Gaucher disease and an infiltrating liver lesion detected on imaging, which was pathologically shown to be focal changes related to the disease...
February 1, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28141506/antiviral-activity-of-acid-beta-glucosidase-1-on-enterovirus-71-a-causative-agent-of-hand-foot-mouth-disease
#11
Keiko Nakata, Satoshi Takeda, Atsushi Tanaka, Jimmy Kwang, Jun Komano
Enterovirus 71 (EV71) is a causative agent of hand-foot-mouth disease (HFMD). EV71 causes fever, rash, diarrhea, and, in some cases, acute encephalopathy/encephalitis, which can be fatal. No specific treatment is currently available for EV71 infection. Here, we conducted a cDNA library screen and identified acid β-glucosidase 1 (GBA1; also known as β-glucocerebrosidase) as an EV71 resistance factor. The anti-EV71 function of GBA1 was verified by gene transduction and knockdown experiments. Cerezyme, a molecular drug used to treat Gaucher's disease having recombinant human GBA1 as the active ingredient, protected against EV71 infection...
January 27, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28131618/taliglucerase-alfa-in-gaucher-disease-description-of-a-brazilian-experience
#12
R Cravo, V Rotman, P M N Oliveira, H G T Defendi, D A Conceição, J R Xavier, R Chertkoff, T G Noronha, M L S Maia
We evaluated retrospectively, efficacy and safety of taliglucerase alfa for Gaucher disease in a Brazilian population. Thirteen patients were included for efficacy analysis only one of them naïve to enzyme replacement therapy. All the parameters evaluated remained stable throughout treatment (mean duration 3,5years). Only three patients (out of 35) had to discontinue treatment due to a serious adverse event. In conclusion, treatment with taliglucerase alfa was found to be safe and efficient.
January 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28126847/lipids-regulate-the-hydrolysis-of-membrane-bound-glucosylceramide-by-lysosomal-%C3%AE-glucocerebrosidase-gba1
#13
Misbaudeen Abdul-Hammed, Bernadette Breiden, Günter Schwarzmann, Konrad Sandhoff
Glucosylceramide is the primary storage lipid in the lysosomes of Gaucher patients and a secondary one in Niemann-Pick disease types A, B and C. The regulatory roles of lipids on the hydrolysis of membrane bound glucosylceramide by glucocerebrosidase GBA1 was probed using a detergent-free liposomal assay. The degradation rarely occurs at uncharged liposomal surfaces in the absence of Sap C. However, anionic lipids stimulate glucosylceramide hydrolysis at low pH by up to 1000 fold depending on the nature and position of the negative charges in their head groups while cationic lipids inhibit the degradation, thus showing the importance of electrostatic interactions between the polycationic GBA1 and the negatively charged vesicle surfaces at low pH...
January 26, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28126395/a-pooled-analysis-of-adverse-events-in-393-adults-with-gaucher-disease-type-1-from-four-clinical-trials-of-oral-eliglustat-evaluation-of-frequency-timing-and-duration
#14
M Judith Peterschmitt, Gerald F Cox, Jennifer Ibrahim, James MacDougall, Lisa H Underhill, Palni Patel, Sebastiaan J M Gaemers
Eliglustat, an oral substrate reduction therapy, is a first-line therapy for adults with Gaucher disease type 1 and a compatible CYP2D6 metabolizer phenotype. Clinicians have requested more information about frequency, timing, and duration of adverse events associated with eliglustat. Adverse event data as of January 31, 2013 for all patients who received at least one dose of eliglustat were pooled from four eliglustat clinical trials (393 patients representing 535 patient-years of exposure). The following 10 adverse events noted in the eliglustat US Prescribing Information (USPI) and EU Summary of Product Characteristics (SmPC) were evaluated with regard to frequency, drug-relatedness, severity, seriousness, duration, and timing of onset: headache, arthralgia, diarrhea, nausea, fatigue, flatulence, abdominal pain, upper abdominal pain, back pain, and extremity pain...
January 13, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28123414/chaperoning-glucocerebrosidase-a-therapeutic-strategy-for-both-gaucher-disease-and-parkinsonism
#15
Benjamin McMahon, Elma Aflaki, Ellen Sidransky
No abstract text is available yet for this article.
November 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/28111116/patients-with-gaucher-type-1-switching-from-imiglucerase-to-miglustat-therapy
#16
Ebru Canda, Melis Kose, Mehtap Kagnici, Sema Kalkan Ucar, Eser Y Sozmen, Mahmut Coker
No abstract text is available yet for this article.
January 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28103924/combination-therapy-in-a-patient-with-chronic-neuronopathic-gaucher-disease-a-case-report
#17
Ferdinando Ceravolo, Michele Grisolia, Simona Sestito, Francesca Falvo, Maria Teresa Moricca, Daniela Concolino
BACKGROUND: The variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms and protracted neurological and visceral involvement. The first-choice treatment for nonneuronopathic Gaucher disease is enzyme replacement therapy with recombinant analogues of the deficient human enzyme glucocerebrosidase. Enzyme replacement therapy has been shown to improve hematological and bone manifestations associated with Gaucher disease, but, as with most proteins, recombinant enzymes cannot cross the blood-brain barrier, which prevents effects on neurological manifestations...
January 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28098793/osteocyte-alterations-induce-osteoclastogenesis-in-an-in-vitro-model-of-gaucher-disease
#18
Constanza Bondar, Maximiliano Ormazabal, Andrea Crivaro, Malena Ferreyra-Compagnucci, María Victoria Delpino, Paula Adriana Rozenfeld, Juan Marcos Mucci
Gaucher disease (GD) is caused by mutations in the glucosylceramidase β (GBA 1) gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to the accumulation of the glycolipid glucocerebroside in the lysosomes of cells, mainly in the monocyte/macrophage lineage. Its mildest form is Type I GD, characterized by non-neuronopathic involvement. Bone compromise is the most disabling aspect of the Gaucher disease. However, the pathophysiological aspects of skeletal alterations are not yet fully understood...
January 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28098348/impact-of-lysosomal-storage-disorders-on-biology-of-mesenchymal-stem-cells-evidences-from-in-vitro-silencing-of-glucocerebrosidase-gba-and-alpha-galactosidase-a-gla-enzymes
#19
Tiziana Squillaro, Antonucci Ivana, Nicola Alessio, Anna Esposito, Marilena Cipollaro, Marina Melone, Gianfranco Peluso, Liborio Stuppia, Umberto Galderisi
Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD), and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Among stem cells, mesenchymal stem cells (MSCs) are a commonly investigated population given their role in hematopoiesis and the homeostatic maintenance of many organs and tissues...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28095017/spectrum-of-xanthogranulomatous-processes-in-the-abdomen-and-pelvis-a-pictorial-review-of-infectious-inflammatory-and-proliferative-responses
#20
Kelsey S Bourm, Christine O Menias, Kamran Ali, Kinan Alhalabi, Khaled M Elsayes
OBJECTIVE: Xanthogranulomatous (XG) processes are rare inflammatory conditions with the characteristic pathologic feature of lipid-laden macrophages or histiocyte cells. Imaging findings are nonspecific and can simulate aggressive neoplastic processes. XG processes can be caused by infection, inflammation, histolytic process, or an inherited lysosomal disorder. XG infectious processes are mainly seen in cholecystitis and pyelonephritis, but several other organs can also be involved. Histiocytic processes can be divided into Langerhans and non-Langerhans cell histiocytosis...
January 17, 2017: AJR. American Journal of Roentgenology
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