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Fabry disease

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https://www.readbyqxmd.com/read/28643672/switch-from-agalsidase-beta-to-agalsidase-alfa-in-the-enzyme-replacement-therapy-of-patients-with-fabry-disease-in-latin-america
#1
Diego Ripeau, Hernán Amartino, Martín Cedrolla, Luis Urtiaga, Bella Urdaneta, Marilis Cano, Rita Valdez, Norberto Antongiovanni, Francisca Masllorens
There are currently two available enzyme replacement therapies for Fabry disease and little information regarding efficacy and safety of switching therapies. Between 2009 and 2012 there was a worldwide shortage of agalsidase beta and patients on that enzyme were switched to agalsidase alfa. This retrospective observational study assessed a 2-year period of efficacy and safety in a population of Fabry patients, in Argentina (30 patients) and Venezuela (3 patients), who switched therapies from algasidase beta to agalsidase alfa...
2017: Medicina
https://www.readbyqxmd.com/read/28634420/characterization-of-the-proinflammatory-profile-of-synovial-fluid-derived-exosomes-of-patients-with-osteoarthritis
#2
Rossana Domenis, Rossella Zanutel, Federica Caponnetto, Barbara Toffoletto, Adriana Cifù, Cinzia Pistis, Paolo Di Benedetto, Araldo Causero, Massimo Pozzi, Fabrizio Bassini, Martina Fabris, Kayvan R Niazi, Patrick Soon-Shiong, Francesco Curcio
The purpose of this study is to characterize synovial fluid- (SF-) derived exosomes of patients with gonarthrosis comparing two methods of isolation and to investigate their immune regulatory properties. Extracellular vesicles (EVs) have been isolated from inflamed SF by polymer precipitation method and quantified by Exocet kit and by nanoparticle tracking analysis. Vesicles expressed all the specific exosomal markers by immunoblot and FACS. After isolation with Exoquick, a relevant contamination by immune complexes was detected, which required further magnetic bead-based purification to remove...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28625968/long-term-dose-dependent-agalsidase-effects-on-kidney-histology-in-fabry-disease
#3
Rannveig Skrunes, Camilla Tøndel, Sabine Leh, Kristin Kampevold Larsen, Gunnar Houge, Einar Skulstad Davidsen, Carla Hollak, André B P van Kuilenburg, Frédéric M Vaz, Einar Svarstad
BACKGROUND AND OBJECTIVES: Dose-dependent clearing of podocyte globotriaosylceramide has previously been shown in patients with classic Fabry disease treated with enzyme replacement. Our study evaluates the dose-dependent effects of agalsidase therapy in serial kidney biopsies of patients treated for up to 14 years. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Twenty patients with classic Fabry disease (12 men) started enzyme replacement therapy at a median age of 21 (range =7-62) years old...
June 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28619986/contribution-of-established-stroke-risk-factors-to-the-burden-of-stroke-in-young-adults
#4
Annette Aigner, Ulrike Grittner, Arndt Rolfs, Bo Norrving, Bob Siegerink, Markus A Busch
BACKGROUND AND PURPOSE: As stroke in young adults is assumed to have different etiologies and risk factors than in older populations, the aim of this study was to examine the contribution of established potentially modifiable cardiovascular risk factors to the burden of stroke in young adults. METHODS: A German nationwide case-control study based on patients enrolled in the SIFAP1 study (Stroke In Young Fabry Patients) 2007 to 2010 and controls from the population-based GEDA study (German Health Update) 2009 to 2010 was performed...
June 15, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28618999/biomarkers-for-diagnosing-and-staging-of-fabry-disease
#5
Johannes Krämer, Frank Weidemann
BACKGROUND: Fabry disease is a X-linked lysosomal storage disorder caused by deficient activity of α -galactosidase A which leads to progressive intracellular accumulation of globotriaosylceramide in tissues and organs including heart, kidney, vascular endothelium, the nervous system, the eyes and the skin. Cardiac involvement is common, leads to fatal complications and is mainly responsible for reduced life expectancy in Fabry disease. The exact staging of disease progression and timely initiation of treatment is essential in Fabry disease...
June 16, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28618006/lucerastat-an-iminosugar-for-substrate-reduction-therapy-pharmacokinetics-tolerability-and-safety-in-subjects-with-mild-moderate-and-severe-renal-function-impairment
#6
Nicolas Guérard, Christian Zwingelstein, Jasper Dingemanse
Lucerastat, an inhibitor of glucosylceramide synthase, has the potential for substrate reduction therapy in glycosphingolipid storage disorders such as Fabry disease. In pharmacokinetic studies in rats, dogs, and healthy subjects, the main route of elimination was renal. The pharmacokinetics, tolerability, and safety of lucerastat were evaluated in subjects with mild (group A), moderate (group B), and severe (group C) renal impairment. Group D included healthy subjects. Thirty-two subjects (8 per group) were included in this single-center, open-label study and received a single oral dose of 1000 mg lucerastat in groups A and B and 500 mg in groups C and D...
June 15, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28615537/inter-familial-and-intra-familial-phenotypic-variability-in-three-sicilian-families-with-anderson-fabry-disease
#7
Antonino Tuttolomondo, Irene Simonetta, Giovanni Duro, Rosaria Pecoraro, Salvatore Miceli, Paolo Colomba, Carmela Zizzo, Antonia Nucera, Mario Daidone, Tiziana Di Chiara, Rosario Scaglione, Vittoriano Della Corte, Francesca Corpora, Danai Vogiatzis, Antonio Pinto
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes, thus to cellular and vascular dysfunction. To date, numerous mutations (according to recent data more than 1000 mutations) have been reported in the GLA intronic and exonic mutations. Traditionally, clinical manifestations are more severe in affected hemizygous males than in females...
May 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28615118/functional-and-biological-studies-of-%C3%AE-galactosidase-a-variants-with-uncertain-significance-from-newborn-screening-in-taiwan
#8
Hsuan-Chieh Liao, Ting-Rong Hsu, Leslie Young, Chuan-Chi Chiang, Chun-Kai Huang, Hao-Chuan Liu, Dau-Ming Niu, Yann-Jang Chen
Fabry disease is an X-linked disorder resulted from deficiency of α-galactosidase A (GLA) activity. In Taiwan, a total of 792,247 newborns were screened from 2008 to 2014 in two newborn screening centers, and 13 variants of uncertain significance (VOUS) in the GLA gene were identified. To determine whether these variants were pathogenic or not, functional, biochemical, clinical and pedigree analyses were performed. In vitro functional assay was established through site-directed mutagenesis, and four in silico tools were used to predict pathogenesis...
June 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28612180/immunogenicity-of-biologics-in-chronic-inflammatory-diseases-a-systematic-review
#9
REVIEW
Vibeke Strand, Alejandro Balsa, Jamal Al-Saleh, Leonor Barile-Fabris, Takahiko Horiuchi, Tsutomu Takeuchi, Sadiq Lula, Charles Hawes, Blerina Kola, Lisa Marshall
OBJECTIVES: A systematic review was conducted to explore the immunogenicity of biologic agents across inflammatory diseases and its potential impact on efficacy/safety. METHODS: Literature searches were conducted through November 2016 to identify controlled and observational studies of biologics/biosimilars administered for treatment of rheumatoid arthritis (RA), psoriatic arthritis (PsA), juvenile idiopathic arthritis (JIA), ankylosing spondylitis (AS), non-radiographic axial spondyloarthritis (nr-axSpA), psoriasis (Ps), Crohn's disease, and ulcerative colitis...
June 13, 2017: BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
https://www.readbyqxmd.com/read/28608328/towards-accurate-and-precise-t-1-and-extracellular-volume-mapping-in-the-myocardium-a-guide-to-current-pitfalls-and-their-solutions
#10
REVIEW
Donnie Cameron, Vassilios S Vassiliou, David M Higgins, Peter D Gatehouse
Mapping of the longitudinal relaxation time (T 1) and extracellular volume (ECV) offers a means of identifying pathological changes in myocardial tissue, including diffuse changes that may be invisible to existing T 1-weighted methods. This technique has recently shown strong clinical utility for pathologies such as Anderson-Fabry disease and amyloidosis and has generated clinical interest as a possible means of detecting small changes in diffuse fibrosis; however, scatter in T 1 and ECV estimates offers challenges for detecting these changes, and bias limits comparisons between sites and vendors...
June 12, 2017: Magma
https://www.readbyqxmd.com/read/28607873/prevalence-of-chronic-kidney-disease-in-fabry-disease-patients-multicenter-cross-sectional-study-in-argentina
#11
Sebastián Jaurretche, Norberto Antogiovanni, Fernando Perreta
Nephropathy is one of the major complications of Fabry Disease (FD) and mainly includes reduced glomerular filtration rate (GFR) and proteinuria. Despite the frequency, scarce information exists regarding the frequency of CKD as well as other related complications in FD patients in Argentina. The aim of the study was to measure the prevalence of CKD at diagnosis of FD as well as to describe other related conditions in a large cohort of patients with FD. Methods: a cross-sectional study performed in three FD centers of Argentina during January 2014 and January 2016...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28603745/lentivector-iterations-and-pre-clinical-scale-up-toxicity-testing-targeting-mobilized-cd34-cells-for-correction-of-fabry-disease
#12
Ju Huang, Aneal Khan, Bryan C Au, Dwayne L Barber, Lucía López-Vásquez, Nicole L Prokopishyn, Michel Boutin, Michael Rothe, Jack W Rip, Mona Abaoui, Murtaza S Nagree, Shaalee Dworski, Axel Schambach, Armand Keating, Michael L West, John Klassen, Patricia V Turner, Sandra Sirrs, C Anthony Rupar, Christiane Auray-Blais, Ronan Foley, Jeffrey A Medin
Fabry disease is a rare lysosomal storage disorder (LSD). We designed multiple recombinant lentivirus vectors (LVs) and tested their ability to engineer expression of human α-galactosidase A (α-gal A) in transduced Fabry patient CD34(+) hematopoietic cells. We further investigated the safety and efficacy of a clinically directed vector, LV/AGA, in both ex vivo cell culture studies and animal models. Fabry mice transplanted with LV/AGA-transduced hematopoietic cells demonstrated α-gal A activity increases and lipid reductions in multiple tissues at 6 months after transplantation...
June 16, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28601129/fabry-disease-diagnostic-methods-in-nephrology-practice
#13
Bojan Vujkovac
Fabry disease (FD; OMIM 301500) is a rare X-linked systemic disease caused by a mutation of the GLA gene. Consequently, there is very low, or even absent, activity of the lysosomal enzyme α-galactosidase A (α-Gal A), resulting in the progressive accumulation of glycosphingolipids (predominantly, globotriaosylceramide (GL-3)) in various cells of different organs. Chronic progressive proteinuric kidney disease is one of the hallmarks of this disease, and it constitutes an important component of this condition's clinical picture...
June 9, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28596512/paricalcitol-as-an-antiproteinuric-agent-can-result-in-the-deterioration-of-renal-and-heart-function-in-a-patient-with-fabry-disease
#14
Tajda Keber, Martin Tretjak, Andreja Cokan Vujkovac, Marija Mravljak, Katja Ravber, Bojan Vujkovac
BACKGROUND Fabry disease is a rare and progressive X-linked inherited disorder of glycosphingolipid metabolism that is due to deficient or absent lysosomal a-galactosidase A activity. Among its other associated signs and symptoms, patients present with renal failure and proteinuria, which are markers of disease progression. Renin-angiotensin-aldosterone system (RAAS) blockers can slow the progression of chronic renal failure and proteinuria. In fact, some studies have shown the beneficial effects of paricalcitol on proteinuria...
June 9, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28596458/prevalence-of-fabry-disease-and-outcomes-in-young-canadian-patients-with-cryptogenic-ischemic-cerebrovascular-events
#15
Sylvain Lanthier, Gustavo Saposnik, Gerald Lebovic, Karen Pope, Daniel Selchen, David F Moore
BACKGROUND AND PURPOSE: Previous studies reported Fabry disease in 0% to 4% of young patients with cryptogenic ischemic stroke (IS). We sought to determine the prevalence of Fabry and outcomes among young Canadians with cryptogenic IS or transient ischemic attack (TIA). METHODS: We prospectively enrolled individuals aged 18 to 55 with IS or speech or motor TIA, and no cause identified despite predetermined investigation. α-galactosidase-A gene was sequenced for Fabry diagnosis...
June 8, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28593486/urinary-mulberry-cells-and-mulberry-bodies-are-useful-tool-to-detect-late-onset-fabry-disease
#16
Homare Shimohata, Hiroshi Maruyama, Yasunori Miyamoto, Mamiko Takayasu, Kouichi Hirayama, Masaki Kobayashi
Fabry disease is an X-linked lysosomal storage disorder caused by a lack of α-galactosidase A activity, which leads to the accumulation of globotriaosylceramide in various organs. A complete lack of α-galactosidase A activity in a hemizygous male is the classical phenotype, and some hemizygous males show primarily cardiac and/or renal symptoms that appear in adulthood; this is called the variant type or the late-onset type. The kidney and heart are the major target organs, with damage to these organs related to mortality...
June 7, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28592657/induced-pluripotent-stem-cell-models-of-lysosomal-storage-disorders
#17
REVIEW
Daniel K Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky
Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology. Patient-derived iPSC models have been generated for a number of lysosomal storage disorders, including Gaucher disease, Pompe disease, Fabry disease, metachromatic leukodystrophy, the neuronal ceroid lipofuscinoses, Niemann-Pick types A and C1, and several of the mucopolysaccharidoses...
June 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28592315/efficacy-and-safety-of-enzyme-replacement-therapy-with-agalsidase-alfa-in-36-treatment-na%C3%A3-ve-fabry-disease-patients
#18
Kazuya Tsuboi, Hiroshi Yamamoto
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta. There are many reports on efficacy and safety of ERT. However, most of the previous studies are done as a retrospective medical records analysis. METHODS: The Japan Fabry Research - 002 (JFR-002) was a prospective observational clinical study of 36 ERT-naïve FD patients (14 men and 22 women) at baseline (BL) and after initiation of ERT with agalsidase alfa 0...
June 7, 2017: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28585070/thromboses-and-hemorrhages-are-common-in-mpn-patients-with-high-jak2v617f-allele-burden
#19
Irene Bertozzi, Giulia Bogoni, Giacomo Biagetti, Elena Duner, Anna Maria Lombardi, Fabrizio Fabris, Maria Luigia Randi
The most common causes of morbidity and mortality in myeloproliferative neoplasms (MPN) are thrombotic and hemorrhagic complications. The JAK2V617F mutation, commonly found in MPN, correlates with several clinical and laboratory characteristics even if the relevance of JAK2V617F allele burden in the natural history of these diseases is unclear. In this study we searched, a relation between thrombotic and hemorrhagic complications and JAK2V617F allele burden level in MPN patients. We evaluated 253 consecutive MPN [121 essential thrombocythemia (ET), 124 polycythemia vera (PV), and 8 primary myelofibrosis (PMF)] patients in whom the JAK2V617F allele burden was available, all studied and followed (median 8...
June 6, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28579207/peripheral-nerve-involvement-in-fabry-s-disease-which-investigations-a-case-series-and-review-of-the-literature
#20
J Franques, P Sahuc, B Dussol, G Penaranda, L Swiader, R Froissart, S Attarian, C Stavris, L Chiche, J Pouget
BACKGROUND: Peripheral nerve system (PNS) involvement is common in Fabry's disease (FD), predominantly affecting the small nerve fibers that are difficult to investigate with conventional electrophysiological methods. PATIENTS AND METHODS: Eighteen patients followed for Fabry's disease underwent a prospective series of electroneurophysiological explorations, including a study of the cardiac parasympathetic autonomic nervous system (ANS) and electrochemical skin conductance (ESC) tests...
June 1, 2017: Revue Neurologique
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