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Gaucher emergency

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https://www.readbyqxmd.com/read/27919449/nonsteroidal-anti-inflammatory-drugs-may-affect-cytokine-response-and-benefit-healing-of-combat-related-extremity-wounds
#1
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...
December 2, 2016: Surgery
https://www.readbyqxmd.com/read/27598339/progression-of-behavioral-and-cns-deficits-in-a-viable-murine-model-of-chronic-neuronopathic-gaucher-disease
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/25621170/on-the-way-to-commercializing-plant-cell-culture-platform-for-biopharmaceuticals-present-status-and-prospect
#14
Jianfeng Xu, Ningning Zhang
Plant cell culture is emerging as an alternative bioproduction system for recombinant pharmaceuticals. Growing plant cells in vitro under controlled environmental conditions allows for precise control over cell growth and protein production, batch-to-batch product consistency and a production process aligned with current good manufacturing practices. With the recent US FDA approval and commercialization of the world's first plant cell-based recombinant pharmaceutical for human use, β-glucocerebrosidase for treatment of Gaucher's disease, a new era has come in which plant cell culture shows high potential to displace some established platform technologies in niche markets...
December 1, 2014: Pharmaceutical Bioprocessing
https://www.readbyqxmd.com/read/25573151/gaucher-related-synucleinopathies-the-examination-of-sporadic-neurodegeneration-from-a-rare-disease-angle
#15
REVIEW
S Pablo Sardi, Seng H Cheng, Lamya S Shihabuddin
Gaucher disease, the most common lysosomal storage disease, is caused by a recessively inherited deficiency in glucocerebrosidase and subsequent accumulation of toxic lipid substrates. Heterozygous mutations in the lysosomal glucocerebrosidase gene (GBA1) have recently been recognized as the highest genetic risk factor for the development of α-synuclein aggregation disorders ("synucleinopathies"), including Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Despite the wealth of experimental, clinical and genetic evidence that supports the association between mutant genotypes and synucleinopathy risk, the precise mechanisms by which GBA1 mutations lead to PD and DLB remain unclear...
February 2015: Progress in Neurobiology
https://www.readbyqxmd.com/read/25416676/emerging-therapeutic-targets-for-gaucher-disease
#16
REVIEW
Einat B Vitner, Ayelet Vardi, Timothy M Cox, Anthony H Futerman
INTRODUCTION: Gaucher disease (GD) is an inherited metabolic disorder caused by mutations in the glucocerebrosidase (GBA1) gene. Although infusions of recombinant GBA ameliorate the systemic effects of GD, this therapy has no effect on the neurological manifestations. Patients with the neuronopathic forms of GD (nGD) are often severely disabled and die prematurely. The search for innovative drugs is thus urgent for the neuronopathic forms. AREAS COVERED: Here we briefly summarize the available treatments for GD...
March 2015: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/25323865/parkinson-disease-genetics-a-continuum-from-mendelian-to-multifactorial-inheritance
#17
S Petrucci, F Consoli, E M Valente
Parkinson Disease (PD) is a common neurodegenerative disorder of intricate etiology, caused by progressive loss of aminergic neurons and accumulation of Lewy bodies. The predominant role of genetics in the etiology of the disease has emerged since the identification of the first pathogenetic mutation in SNCA (alpha-synuclein) gene, back in 1997. Mendelian parkinsonisms, a minority among all PD forms, have been deeply investigated, with 19 loci identified. More recently, genome wide association studies have provided convincing evidence that variants in some of these genes, as well as in other genes, may confer an increased risk for late onset, sporadic PD...
October 10, 2014: Current Molecular Medicine
https://www.readbyqxmd.com/read/25230221/ignored-avenues-in-alpha-synuclein-associated-proteopathy
#18
REVIEW
Rimpy K Chowhan, Shruti Mittal, Tanveer A Dar, Mohammad A Kamal, Laishram R Singh
Alpha-Synuclein (αSyn) is a 14 kDa pre-synaptic protein predominantly expressed in various regions of brain comprising neocortex, hippocampus, striatum, thalamus and cerebellum. αSyn aggregates have special neuropathologic relevance for comprehending Parkinson's disease (PD) and other synucleopathies due to the presence of αSyn aggregates in brain of patients suffering from these diseases. Direct relationship between PD and various single nuclear polymorphisms of αSyn further displays an inherent significance of mutated αSyn in increasing the risk for developing PD...
2014: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/25131373/early-diagnosis-of-gaucher-disease-in-pediatric-patients-proposal-for-a-diagnostic-algorithm
#19
REVIEW
Maja Di Rocco, Generoso Andria, Federica Deodato, Fiorina Giona, Concetta Micalizzi, Andrea Pession
Gaucher disease (GD) is caused by an enzyme deficiency that leads to the accumulation of glycolipids in various organs. Although the signs and symptoms of GD emerge in childhood in the majority of patients, the disease often remains unrecognized for many years with delay of benefits of therapy or development of irreversible complications. Based on published data and data from the International Collaborative Gaucher Group Registry, an algorithm has been drafted for early diagnosis of GD in pediatric patients...
November 2014: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/24894562/correction-of-lysosomal-dysfunction-as-a-therapeutic-strategy-for-neurodegenerative-diseases
#20
REVIEW
Robert E Boyd, Kenneth J Valenzano
Mutations in the gene that encodes the lysosomal enzyme acid β-glucosidase lead to reduced cellular activity and accumulation of glycosphingolipid substrates, biochemical hallmarks of the lysosomal storage disorder Gaucher disease (GD). Recently such mutations have been identified as risk factors for Parkinson's disease (PD) and related disorders. Both gain-of-function (due to toxic cellular accumulation of mutant enzyme) and loss-of-function (due to accumulation of lipid substrates) hypotheses have been put forth to address the biochemical link between GD and PD...
July 15, 2014: Bioorganic & Medicinal Chemistry Letters
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