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Gaucher emergency

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https://www.readbyqxmd.com/read/29108736/a-randomized-double-blind-trial-comparing-the-effect-on-pain-of-an-oral-sucrose-solution-vs-placebo-in-children-1-to-3%C3%A2-months-old-undergoing-simple-venipuncture
#1
Serge Gouin, Nathalie Gaucher, Denis Lebel, Marie Pier Desjardins
BACKGROUND: Few clinical trials evaluating the efficacy of oral sweet solutions for procedures in the emergency department (ED) have been published. OBJECTIVES: To compare the efficacy of an oral sucrose solution vs. a placebo in reducing pain in infants undergoing venipuncture without cannulation. METHODS: A randomized, double-blinded clinical trial was conducted in a pediatric ED. Infants 1 to 3 months old were randomly allocated to receive 2 mL of 88% sucrose or 2 mL of placebo, 2 min prior to venipuncture...
November 3, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28749998/lc-ms-ms-multiplex-analysis-of-lysosphingolipids-in-plasma-and-amniotic-fluid-a-novel-tool-for-the-screening-of-sphingolipidoses-and-niemann-pick-type-c-disease
#2
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan
BACKGROUND: The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma. METHODOLOGY: We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS/MS: lysoglobotriaosylceramide for Fabry disease, lysohexosylceramide (i...
2017: PloS One
https://www.readbyqxmd.com/read/28719578/de-novo-active-sites-for-resurrected-precambrian-enzymes
#3
Valeria A Risso, Sergio Martinez-Rodriguez, Adela M Candel, Dennis M Krüger, David Pantoja-Uceda, Mariano Ortega-Muñoz, Francisco Santoyo-Gonzalez, Eric A Gaucher, Shina C L Kamerlin, Marta Bruix, Jose A Gavira, Jose M Sanchez-Ruiz
Protein engineering studies often suggest the emergence of completely new enzyme functionalities to be highly improbable. However, enzymes likely catalysed many different reactions already in the last universal common ancestor. Mechanisms for the emergence of completely new active sites must therefore either plausibly exist or at least have existed at the primordial protein stage. Here, we use resurrected Precambrian proteins as scaffolds for protein engineering and demonstrate that a new active site can be generated through a single hydrophobic-to-ionizable amino acid replacement that generates a partially buried group with perturbed physico-chemical properties...
July 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28687233/overview-of-immune-abnormalities-in-lysosomal-storage-disorders
#4
REVIEW
Donato Rigante, Clelia Cipolla, Umberto Basile, Francesca Gulli, Maria Cristina Savastano
The critical relevance of the lysosomal compartment for normal cellular function can be proved by numbering the clinical phenotypes that arise in lysosomal storage disorders (LSDs), a group of around 70 different monogenic autosomal or X-linked syndromes, caused by specific lysosomal enzyme deficiencies: all LSDs are characterized by progressive accumulation of heterogeneous biologic materials in the lysosomes of various parts of the body such as viscera, skeleton, skin, heart, and central nervous system. At least a fraction of LSDs has been associated with mixed abnormalities involving the immune system, while some patients with LSDs may result more prone to autoimmune phenomena...
August 2017: Immunology Letters
https://www.readbyqxmd.com/read/28477283/linking-mitochondrial-dysfunction-to-neurodegeneration-in-lysosomal-storage-diseases
#5
REVIEW
Afshin Saffari, Stefan Kölker, Georg F Hoffmann, Darius Ebrahimi-Fakhari
Lysosomal storage diseases (LSD) are inborn errors of metabolism resulting in multisystem disease. Central nervous system involvement, often with progressive neurodegeneration, accounts for a large portion of the morbidity and mortality seen in many LSD. Available treatments fail to prevent or correct neurologic symptoms and decline. Emerging evidence points to an important role for mitochondrial dysfunction in the pathogenesis and progression of LSD-associated neurodegeneration. Mitochondrial dysfunction in LSD is characterized by alterations in mitochondrial mass, morphology and function...
May 5, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28469644/the-emerging-role-of-autophagic-lysosomal-dysfunction-in-gaucher-disease-and-parkinson-s-disease
#6
REVIEW
Kerri J Kinghorn, Amir M Asghari, Jorge Iván Castillo-Quan
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase (GCase) secondary to mutations in the GBA1 gene. There is an established association between GBA1 mutations and Parkinson's disease (PD), and indeed GBA1 mutations are now considered to be the greatest genetic risk factor for PD. Impaired lysosomal-autophagic degradation of cellular proteins, including α-synuclein (α-syn), is implicated in the pathogenesis of PD, and there is increasing evidence for this also in GD and GBA1-PD...
March 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28224082/clinical-characteristics-of-adult-patients-with-inborn-errors-of-metabolism-in-spain-a-review-of-500-cases-from-university-hospitals
#7
J Pérez-López, L Ceberio-Hualde, J S García-Morillo, J M Grau-Junyent, A Hermida Ameijeiras, M López-Rodríguez, J C Milisenda, M Moltó Abad, M Morales-Conejo, J J Nava Mateos
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27919449/nonsteroidal-anti-inflammatory-drugs-may-affect-cytokine-response-and-benefit-healing-of-combat-related-extremity-wounds
#8
COMPARATIVE STUDY
Felipe A Lisboa, Matthew J Bradley, Matthew T Hueman, Seth A Schobel, Beverly J Gaucher, Edda L Styrmisdottir, Benjamin K Potter, Jonathan A Forsberg, Eric A Elster
BACKGROUND: After adequate operative debridement and antimicrobial therapies, combat-related extremity wounds that either heal or fail are both associated with a distinct inflammatory response. Short-term use of nonsteroidal anti-inflammatory drugs in postoperative pain management may affect this response and, by consequence, the healing potential of these wounds. We investigated whether patients treated with nonsteroidal anti-inflammatory drugs had a distinct inflammatory response; different rates of critical colonization, defined as >10(5) colony forming units on quantitative bacteriology; and healing potential...
April 2017: Surgery
https://www.readbyqxmd.com/read/27598339/progression-of-behavioral-and-cns-deficits-in-a-viable-murine-model-of-chronic-neuronopathic-gaucher-disease
#9
Mei Dai, Benjamin Liou, Brittany Swope, Xiaohong Wang, Wujuan Zhang, Venette Inskeep, Gregory A Grabowski, Ying Sun, Dao Pan
To study the neuronal deficits in neuronopathic Gaucher Disease (nGD), the chronological behavioral profiles and the age of onset of brain abnormalities were characterized in a chronic nGD mouse model (9V/null). Progressive accumulation of glucosylceramide (GC) and glucosylsphingosine (GS) in the brain of 9V/null mice were observed at as early as 6 and 3 months of age for GC and GS, respectively. Abnormal accumulation of α-synuclein was present in the 9V/null brain as detected by immunofluorescence and Western blot analysis...
2016: PloS One
https://www.readbyqxmd.com/read/27491212/prevention-is-the-best-therapy-the-geneticist-s-approach
#10
Gheona Altarescu
Abstract During the last two decades prenatal genetic screening and diagnosis has become the cornerstone of medical care for family planning to prevent genetic disease. Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27125736/klotho-related-protein-klrp-structure-and-functions
#11
REVIEW
Y Hayashi, M Ito
Klotho (KL) family proteins share one or two glycoside hydrolase (GH) motifs homologous to GH family 1. However, the biological significance of GH motifs in KL family proteins remains elusive. We describe here that KL-related protein (KLrP), which is composed of a single GH motif, is a cytosolic β-glucocerebrosidase (GCase, EC 3.2.1.145). We detected a neutral conduritol B epoxide (CBE)-insensitive glucosylceramide (GlcCer)-degrading activity in the cytosol fractions of human fibroblasts, rat brains, and zebrafish embryos...
2016: Vitamins and Hormones
https://www.readbyqxmd.com/read/27098499/a-randomized-controlled-trial-evaluating-the-efficacy-of-oral-sucrose-in-infants-1-to-3-months-old-needing-intravenous-cannulation
#12
RANDOMIZED CONTROLLED TRIAL
Marie Pier Desjardins, Nathalie Gaucher, Sarah Curtis, Sylvie LeMay, Denis Lebel, Serge Gouin
OBJECTIVES: The objective was to compare the efficacy of an oral sucrose versus placebo in reducing pain in infants 1 to 3 months of age during intravenous (IV) cannulation in the emergency department. METHODS: A randomized, double-blind, placebo clinical trial was conducted. Participants were randomly allocated to receive 2 mL of an oral 88% sucrose solution or 2 mL of a placebo solution orally. The outcome measure were mean difference in pain score at 1 minute post-IV cannulation assessed by the Face, Legs, Activity, Cry, and Consolability Pain Scale (FLACC) and the Neonatal Infant Pain Scale (NIPS), crying time, and variations in heart rate...
September 2016: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
https://www.readbyqxmd.com/read/26750431/review-the-spectrum-of-clinical-features-seen-with-alpha-synuclein-pathology
#13
REVIEW
R A Barker, C H Williams-Gray
It has been recognized for many years that a number of chronic neurodegenerative diseases of the CNS are characterized by the development of intracellular inclusion bodies, but it is only relatively recently that the core proteins defining these pathologies have been defined. One such protein is alpha synuclein, that was found to be the main component of Lewy bodies in the late 1990s, and this discovery reinforced the emerging view that alpha synuclein was intimately linked to diseases characterized by this type of pathology--namely Parkinson's disease (PD) and Dementia with Lewy Bodies (DLB)...
February 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/26384672/eliglustat-a-review-in-gaucher-disease-type-1
#14
REVIEW
Lesley J Scott
Oral eliglustat (Cerdelga®) is approved in several countries for the long-term treatment of adults with Gaucher disease type 1 (GD1) who are cytochrome P450 (CYP) 2D6 extensive metabolizers (EMs), intermediate metabolizer (IMs) or poor metabolizers (PMs) [these three CYP categories encompass >90 % of individuals]. Eliglustat is a potent, selective inhibitor of glucosylceramide synthase, the rate-limiting enzyme in the synthesis of certain glycosphingolipids, and thus, reduces the rate of biosynthesis of glycosphingolipids to counteract the catabolic defect (i...
September 2015: Drugs
https://www.readbyqxmd.com/read/26315880/newborn-screening-for-lysosomal-storage-disorders-views-of-genetic-healthcare-providers
#15
Emily C Lisi, Shawn E McCandless
Lysosomal storage diseases (LSDs), lysosomal enzyme deficiencies causing multi-system organ damage, have come to the forefront in newborn screening (NBS) initiatives due to new screening technologies and emerging treatments. We developed a qualitative discussion tool to explore opinions of genetic healthcare providers (HCPs) regarding population-based NBS for MPS types 1 and 2, Pompe, Gaucher, Fabry, and Krabbe diseases. Thirty-eight telephone interviews conducted by a single researcher were analyzed and coded for thematic trends...
April 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/26232157/rapid-single-phase-extraction-of-glucosylsphingosine-from-plasma-a-universal-screening-and-monitoring-tool
#16
Maria Fuller, Jeff Szer, Samantha Stark, Janice M Fletcher
BACKGROUND: Glucosylsphingosine (GluSph) has emerged as a biomarker for the inherited metabolic disorder, Gaucher disease (GD). We developed a simple laboratory test to measure plasma GluSph and show that elevated GluSph is diagnostic for GD as well as informing on disease burden for monitoring patients on treatment. METHODS: GluSph was measured from a single-phase total lipid extraction of 0.01 mL of plasma by liquid chromatography-electrospray ionisation-tandem mass spectrometry and concentrations extrapolated from a seven point standard curve (0...
October 23, 2015: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/26096744/gaucher-disease-and-comorbidities-b-cell-malignancy-and-parkinsonism
#17
REVIEW
Timothy M Cox, Barry E Rosenbloom, Roger A Barker
Data emerging from the International Collaborative Gaucher Group (ICGG) Gaucher Registry together with other contemporary clinical surveys have revealed a close association between Gaucher disease and non-Hodgkin's B-cell lymphoma and myeloma and Gaucher disease and Parkinson's disease. Several possible explanations for increased B-cell proliferation and neoplasia in Gaucher disease have been proposed, including the possible influence of sphingosine (derived from the extra lysosomal metabolism of glucosylceramide), gene modifiers, splenectomy and immune system deregulation induced by cytokines, chemokines, and hydrolases released from Gaucher cells...
July 2015: American Journal of Hematology
https://www.readbyqxmd.com/read/25987177/the-emergence-of-parkinson-disease-among-patients-with-gaucher-disease
#18
REVIEW
Deborah Elstein, Roy Alcalay, Ari Zimran
In the last decade, several lines of evidence have been presented that document the clinical manifestations, genetic associations, and sub-cellular mechanisms of the inter-relatedness of β-glucocerebrosidase mutations and the emergence of Parkinson disease among carriers and patients with Gaucher disease. This review is an attempt to apprise the reader of the recent literature with the caveat that this is an area of intensive exploration that is constantly being updated because of the immediate clinical ramifications but also because of the impact on our understanding of Parkinson disease, and finally because of the unexpected inter-reactions between these entities on the molecular level...
March 2015: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/25934383/-unexpected-out-of-hospital-deliveries-management-and-risk-factors
#19
M Billon, G Bagou, L Gaucher, G Comte, M Balsan, R-C Rudigoz, C Dupont
OBJECTIVES: To estimate the frequency of accidental out-of-hospital deliveries (OHDs), to describe the home care and the complications occurred, and to identify risk factors. MATERIALS AND METHODS: A retrospective case-control study from 1st January 2012 to 31 December 2012 in Lyon urban area. Cases were identified from the Emergency Medical Aid Service 69 (SAMU 69) registry and control from the birth registry of the maternity corresponding to the case, recruiting two controls per case...
March 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
https://www.readbyqxmd.com/read/25819691/eliglustat-compared-with-imiglucerase-in-patients-with-gaucher-s-disease-type-1-stabilised-on-enzyme-replacement-therapy-a-phase-3-randomised-open-label-non-inferiority-trial
#20
RANDOMIZED CONTROLLED TRIAL
Timothy M Cox, Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow, Ana Maria Martins, Elena Lukina, Barry Rosenbloom, Leorah Ross, Jennifer Angell, Ana Cristina Puga
BACKGROUND: The mainstay of treatment for Gaucher's disease type 1 is alternate-week infusion of enzyme replacement therapy (ERT). We investigated whether patients stable on such treatment would remain so after switching to oral eliglustat, a selective inhibitor of glucosylceramide synthase. METHODS: In this phase 3, randomised, multinational, open-label, non-inferiority trial, we enrolled adults (aged ≥18 years) who had received ERT for 3 years or more for Gaucher's disease...
June 13, 2015: Lancet
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