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https://www.readbyqxmd.com/read/28211988/intrathecal-enzyme-replacement-therapy-reverses-cognitive-decline-in-mucopolysaccharidosis-type-i
#1
Igor Nestrasil, Elsa Shapiro, Alena Svatkova, Patricia Dickson, Agnes Chen, Amy Wakumoto, Alia Ahmed, Edward Stehel, Sarah McNeil, Curtis Gravance, Elizabeth Maher
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207863/identification-of-age-dependent-motor-and-neuropsychological-behavioural-abnormalities-in-a-mouse-model-of-mucopolysaccharidosis-type-ii
#2
Hélène F E Gleitz, Claire O'Leary, Rebecca J Holley, Brian W Bigger
Severe mucopolysaccharidosis type II (MPS II) is a progressive lysosomal storage disease caused by mutations in the IDS gene, leading to a deficiency in the iduronate-2-sulfatase enzyme that is involved in heparan sulphate and dermatan sulphate catabolism. In constitutive form, MPS II is a multi-system disease characterised by progressive neurocognitive decline, severe skeletal abnormalities and hepatosplenomegaly. Although enzyme replacement therapy has been approved for treatment of peripheral organs, no therapy effectively treats the cognitive symptoms of the disease and novel therapies are in development to remediate this...
2017: PloS One
https://www.readbyqxmd.com/read/28202722/systemic-delivery-of-factor-ix-messenger-rna-for-protein-replacement-therapy
#3
Suvasini Ramaswamy, Nina Tonnu, Kiyoshi Tachikawa, Pattraranee Limphong, Jerel B Vega, Priya P Karmali, Pad Chivukula, Inder M Verma
Safe and efficient delivery of messenger RNAs for protein replacement therapies offers great promise but remains challenging. In this report, we demonstrate systemic, in vivo, nonviral mRNA delivery through lipid nanoparticles (LNPs) to treat a Factor IX (FIX)-deficient mouse model of hemophilia B. Delivery of human FIX (hFIX) mRNA encapsulated in our LUNAR LNPs results in a rapid pulse of FIX protein (within 4-6 h) that remains stable for up to 4-6 d and is therapeutically effective, like the recombinant human factor IX protein (rhFIX) that is the current standard of care...
February 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28196778/mucopolysaccharidoses-seen-in-adults-in-rheumatology
#4
Stéphane Mitrovic, Hélène Gouze, Laure Gossec, Thierry Schaeverbeke, Bruno Fautrel
Mucopolysaccharidoses are a group of rare lysosomal storage diseases including a great number of polymorph syndromes, each being related to a particular mutation responsible for a deficiency of glycosaminoglycan degrading enzymes, leading to an accumulation of glycosaminoglycans in tissues. Many of them are diagnosed in children or teenagers and have a severe prognosis because of organ failure, and are consequently usually not seen by the adult rheumatologist. However, some of them have a more progressive presentation, with musculoskeletal symptoms at the forefront and a lifespan that nearly reaches that of the general population...
February 11, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28194615/how-we-manage-adenosine-deaminase-deficient-severe-combined-immune-deficiency-ada-scid
#5
Donald B Kohn, H Bobby Gaspar
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases of human SCID. From what was once a uniformly fatal disease, the prognosis for infants with ADA SCID has improved greatly based on the development of multiple therapeutic options, coupled with more frequent early diagnosis due to implementation of newborn screening for SCID. We review the various treatment approaches for ADA SCID including allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen-matched sibling or family member or from a matched unrelated donor or a haplo-identical donor, autologous HSCT with gene correction of the hematopoietic stem cells (gene therapy-GT), and enzyme replacement therapy (ERT) with polyethylene glycol-conjugated adenosine deaminase...
February 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28191770/stem-cell-based-tissue-engineered-laryngeal-replacement
#6
Tahera Ansari, Peggy Lange, Aaron Southgate, Karin Greco, Carla Carvalho, Leanne Partington, Anthony Bullock, Sheila MacNeil, Mark W Lowdell, Paul D Sibbons, Martin A Birchall
Patients with laryngeal disorders may have severe morbidity relating to swallowing, vocalization, and respiratory function, for which conventional therapies are suboptimal. A tissue-engineered approach would aim to restore the vocal folds and maintain respiratory function while limiting the extent of scarring in the regenerated tissue. Under Good Laboratory Practice conditions, we decellularized porcine larynges, using detergents and enzymes under negative pressure to produce an acellular scaffold comprising cartilage, muscle, and mucosa...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28185884/the-emerging-phenotype-of-late-onset-pompe-disease-a-systematic-literature-review
#7
REVIEW
Justin Chan, Ankit K Desai, Zoheb B Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D Hobson-Webb, Laura E Case, Harrison N Jones, Priya S Kishnani
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of LOPD continues to enhance understanding of an evolving phenotype. PURPOSE: To expand our understanding of the evolving phenotype of LOPD since the approval of enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme™/Lumizyme™) in 2006...
December 11, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28185830/children-with-type-1-gaucher-disease-changing-profiles-in-the-21st-century
#8
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/28183317/practical-guide-to-exocrine-pancreatic-insufficiency-breaking-the-myths
#9
EDITORIAL
Maarten R Struyvenberg, Camilia R Martin, Steven D Freedman
BACKGROUND: Exocrine pancreatic insufficiency (EPI) is characterized by a deficiency of exocrine pancreatic enzymes, resulting in malabsorption. Numerous conditions account for the etiology of EPI, with the most common being diseases of the pancreatic parenchyma including chronic pancreatitis, cystic fibrosis, and a history of extensive necrotizing acute pancreatitis. Treatment for EPI includes dietary management, lifestyle changes (i.e., decrease in alcohol consumption and smoking cessation), and pancreatic enzyme replacement therapy...
February 10, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28171221/the-significance-of-electron-microscopic-examination-of-gingiva-in-cases-of-hunter-syndrome-and-hereditary-gingival-fibromatosis
#10
(no author information available yet)
INTRODUCTION: Electron microscopy has been for decades a basic morphological method still used in diagnostic protocols of some pathological conditions affecting the ultrastructure of cells and extracellular matrix. The aim of this study was an ultrastructural description of gingiva of patients with Hunter syndrome and hereditary gingival fibromatosis. PATIENTS AND METHODS: Gingival biopsies were obtained during surgical periodontal treatment from a 9-year-old boy with Hunter disease (with enzyme replacement therapy with recombinant human idursulphase) and a 15-year-old girl with hereditary gingival fibromatosis...
October 8, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28170539/objective-quantification-of-changes-in-corneal-clouding-over-time-in-patients-with-mucopolysaccharidosis
#11
Ahmed Javed, Tariq Aslam, Simon A Jones, Jane Ashworth
Purpose: We determine objective changes in corneal opacification levels over time in patients with mucopolysaccharidoses (MPS) treated with enzyme replacement therapy or hematopoietic stem cell transplant. A prospective cohort study was done of 9 patients with MPS I (Hurler) or VI (Maroteaux-Lamy). Methods: Quantification of corneal clouding using the Iris camera and full ophthalmic examination, including subjective assessment of corneal clouding, was done in 2011 and repeated in 2015/2016...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28166746/a-comparison-of-central-nervous-system-involvement-in-patients-with-classical-fabry-disease-or-the-later-onset-subtype-with-the-ivs4-919g-a-mutation
#12
Han-Jui Lee, Ting-Rong Hsu, Sheng-Che Hung, Wen-Chung Yu, Tzu-Hung Chu, Chia-Feng Yang, Svetlana Bizjajeva, Chui-Mei Tiu, Dau-Ming Niu
BACKGROUND: Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations. METHODS: This was a retrospective analysis of magnetic resonance imaging (MRI) data from Taiwanese patients enrolled in the Fabry Outcome Survey (sponsored by Shire; data extracted March 2015)...
February 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28164623/decreased-synovial-fluid-%C3%AE-melanocyte-stimulating-hormone-%C3%AE-msh-levels-reflect-disease-severity-in-patients-with-posttraumatic-ankle-osteoarthritis
#13
Guangyu Liu, Yunzhen Chen, Guichun Wang, Jianbing Niu
BACKGROUND: α-Melanocyte-stimulating hormone (α-MSH), an endogenous melanocortin peptide, has been demonstrated to have anti-inflammation effects and protect against cartilage damage. Objective In this study, we aimed to investigate whether α-MSH in ankle joint synovial fluid is associated with the disease severity of posttraumatic ankle osteoarthritis (PTAOA). METHODS: 66 PTAOA patients undergoing ankle arthroscopical debridement or ankle joint replacement were enrolled in the study...
August 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28161408/anti-blys-antibody-reduces-the-immune-reaction-against-enzyme-and-enhances-the-efficacy-of-enzyme-replacement-therapy-in-fabry-disease-model-mice
#14
Yohei Sato, Hiroyuki Ida, Toya Ohashi
Formation of antibodies against a therapeutic enzyme is an important complication during enzyme replacement therapy (ERT) for lysosomal storage diseases. Fabry disease (FD) is caused by a deficiency of alpha-galactosidase (GLA), which results in the accumulation of globotriaosylceramide (GL-3). We have shown immune tolerance induction (ITI) during ERT in FD model mice by using an anti-B lymphocyte stimulator (anti-BlyS) antibody (belimumab). A single dose of the anti-BlyS antibody temporarily lowered the percentage of B cells and IgG antibody titer against recombinant human GLA...
February 2, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28160363/establishment-of-a-tobacco-by2-cell-line-devoid-of-plant-specific-xylose-and-fucose-as-a-platform-for-the-production-of-biotherapeutic-proteins
#15
Uri Hanania, Tami Ariel, Yoram Tekoah, Liat Fux, Maor Sheva, Yehuda Gubbay, Mara Weiss, Dina Oz, Yaniv Azulay, Albina Turbovski, Yehava Forster, Yoseph Shaaltiel
Plant produced glycoproteins contain N-linked glycans with plant-specific residues of β(1,2)-xylose and core α(1,3)-fucose, which do not exist in mammalian derived proteins. Although our experience with two enzymes that are used for enzyme replacement therapy (ERT) does not indicate that the plant sugar residues have deleterious effects, we made a conscious decision to eliminate these moieties from plant-expressed proteins. We knocked out the β(1,2)-xylosyltranferase (XylT) and the α(1,3)-fucosyltransferase (FucT) genes, using CRISPR/Cas9 genome editing, in Nicotiana...
February 3, 2017: Plant Biotechnology Journal
https://www.readbyqxmd.com/read/28157751/inherited-and-uncommon-causes-of-stroke
#16
Jennifer Juhl Majersik
PURPOSE OF REVIEW: This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke. RECENT FINDINGS: Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia...
February 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28154884/antibody-mediated-enzyme-replacement-therapy-targeting-both-lysosomal-and-cytoplasmic-glycogen-in-pompe-disease
#17
Haiqing Yi, Tao Sun, Dustin Armstrong, Scott Borneman, Chunyu Yang, Stephanie Austin, Priya S Kishnani, Baodong Sun
: Pompe disease is characterized by accumulation of both lysosomal and cytoplasmic glycogen primarily in skeletal and cardiac muscles. Mannose-6-phosphate receptor-mediated enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) targets the enzyme to lysosomes and thus is unable to digest cytoplasmic glycogen. Studies have shown that anti-DNA antibody 3E10 penetrates living cells and delivers "cargo" proteins to the cytosol or nucleus via equilibrative nucleoside transporter ENT2...
February 2, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28139119/proteomic-analysis-of-human-pluripotent-stem-cell-cardiomyogenesis-revealed-altered-expression-of-metabolic-enzymes-and-pdlim5-isoforms
#18
Sarah Anna Konze, Sebastian Werneburg, Astrid Oberbeck, Ruth Olmer, Henning Kempf, Monica Jara-Avaca, Andreas Pich, Robert Zweigerdt, Falk Fritz Reinhold Buettner
Human pluripotent stem cells (hPSCs), both embryonic (hESCs) and induced (hiPSCs), can be differentiated into derivatives of the three germ layers and are promising tools in regenerative medicine. Cardiovascular diseases are the top-ranking cause of premature death worldwide and cell replacement therapies based on in vitro differentiated cardiomyocytes might provide a promising perspective to cure patients in the future. The molecular processes during hPSC cardiomyogenesis are far from being fully understood and we thus have focused here on characterizing the proteome along hESC in vitro differentiation into cardiomyocytes (CMs)...
January 31, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28131618/taliglucerase-alfa-in-gaucher-disease-description-of-a-brazilian-experience
#19
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/28130312/pancreatic-enzyme-replacement-therapy-in-chronic-pancreatitis-a-long-way-to-go
#20
John A Windsor
No abstract text is available yet for this article.
January 27, 2017: Gut
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