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https://www.readbyqxmd.com/read/28812093/a-convenient-approach-to-facilitate-monitoring-gaucher-disease-progression-and-therapeutic-response
#1
Wujuan Zhang, Melissa Oehrle, Carlos E Prada, Ida Vanessa D Schwartz, Somchai Chutipongtanate, Duangrurdee Wattanasirichaigoon, Venette Inskeep, Mei Dai, Dao Pan, Ying Sun, Kenneth D R Setchell
Gaucher disease (GD) is caused by mutations on the GBA1 gene leading to deficiency in acid β-glucosidase (GCase) and subsequent accumulation of its substrates, glucosylceramide (GlcC) and glucosylsphingosine (GlcS). GlcS in plasma has been proposed as a highly sensitive and specific biomarker for the diagnosis of GD and for monitoring disease progression and response to therapy. Here we report a novel robust and accurate hydrophilic interaction liquid chromatography tandem mass spectrometric method (HILIC-MS/MS) for the direct measurement of glucosylsphingosine (GlcS) in dried plasma spots (DPS)...
August 16, 2017: Analyst
https://www.readbyqxmd.com/read/28804801/pancreatic-enzyme-supplementation-after-gastrectomy-for-gastric-cancer-a-randomized-controlled-trial
#2
Marco Catarci, Manuele Berlanda, Giovanni Battista Grassi, Francesco Masedu, Stefano Guadagni
BACKGROUND: Gastrectomy for gastric cancer is a significant cause of secondary exocrine pancreatic insufficiency. Pancreatic enzyme replacement therapy may influence nutritional status and quality of life after gastrectomy, but the pertinent clinical research to date remains controversial. A randomized controlled trial to test this hypothesis was carried out. METHODS: After gastrectomy, 43 patients with gastric cancer were randomly assigned to a normal diet (Normal-d; n = 21) or to a pancreatic enzyme supplementation diet (PES-d; n = 22) and were followed up during a 12-month period, assessing nutritional status and quality of life through body mass index (BMI), instant nutritional assessment (INA) class status, serum pre-albumin (SPA) values, and GastroiIntestinal Quality of Life Index (GIQLI)...
August 14, 2017: Gastric Cancer
https://www.readbyqxmd.com/read/28803392/attitudes-of-individuals-with-gaucher-disease-toward-substrate-reduction-therapies
#3
Victoria F Wagner, Hope Northrup, S Shahrukh Hashmi, Joanne M Nguyen, Mary Kay Koenig, Jessica M Davis
Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapies (ERTs). More recently, oral substrate reduction therapies (SRTs) were approved for treatment of GD. Although both therapies alleviate disease symptoms, attitudes toward SRTs and patient perceptions of health while using SRT have not been well established. Electronic surveys were administered to adults with GD and asked about treatment history, attitudes toward SRTs, and perception of health while using SRTs as compared to ERTs, if applicable to the participant...
August 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28802945/effect-of-dual-compared-to-no-or-single-renin-angiotensin-system-blockade-on-risk-of-renal-replacement-therapy-or-death-in-predialysis-patients-prepare-2-study
#4
Pauline W M Voskamp, Friedo W Dekker, Merel van Diepen, Ellen K Hoogeveen
Current guidelines on hypertension treatment in chronic kidney disease (CKD) patients discourage combined angiotensin-converting enzyme inhibitor (ACEi) and angiotensin II receptor blocker (ARB) use due to the risk of an increased kidney function decline. However, dual compared to single renin-angiotensin system (RAS) blockade may have more efficacy with regard to hypertension and proteinuria. Among incident predialysis patients (CKD 4-5), we compared dual with no or single RAS blockade regarding kidney function decline and risk of renal replacement therapy (RRT) or death...
July 22, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/28764969/peptide-nucleic-acids-advanced-tools-for-biomedical-applications
#5
REVIEW
Anjali Gupta, Anuradha Mishra, Nidhi Puri
Peptide Nucleic Acids (PNAs) are the DNA/RNA analogues in which sugar-phosphate backbone is replaced by N-2-aminoethylglycine repeating units. PNA contains neutral backbone hence due to the absence of electrostatic repulsion, its hybridization shows remarkable stability towards complementary oligonucleotides. PNAs are highly resistant to cleavage by chemicals and enzymes due to the substrate specific nature of enzymes and therefore not degraded inside the cells. PNAs are emerging as new tools in the market due to their applications in antisense and antigene therapies by inhibiting translation and transcription respectively...
July 29, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28763689/investigation-of-novel-pharmacological-chaperones-for-gaucher-disease
#6
Buge Yilmazer, Z Begum Yagci, Emre Bakar, Burcu Ozden, Kutlu Ulgen, Elif Ozkirimli
Beta-Glucocerebrosidase (GBA) is a lysosomal protein that is responsible for the hydrolysis of glycosylceramide into glucose and ceramide. Mutations in GBA lead to the accumulation of glycosylceramide in the lysosome causing an enlargement of the spleen and the liver and skeletal deformations. This disease is called Gaucher Disease. Enzyme replacement therapies and substrate reduction methods that are used to treat Gaucher Disease fail when the disease is neuropathic because they fail to pass the blood brain barrier...
July 20, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28763515/retrospective-study-of-long-term-outcomes-of-enzyme-replacement-therapy-in-fabry-disease-analysis-of-prognostic-factors
#7
Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy. To study the association of potential biochemical and clinical prognostic factors with the disease course (clinical events, progression of cardiac and renal disease) we retrospectively evaluated 293 treated patients from three international centers of excellence...
2017: PloS One
https://www.readbyqxmd.com/read/28761815/a-pilot-study-on-using-rapamycin-carrying-synthetic-vaccine-particles-svp-in-conjunction-with-enzyme-replacement-therapy-to-induce-immune-tolerance-in-pompe-disease
#8
Han-Hyuk Lim, Haiqing Yi, Takashi K Kishimoto, Fengqin Gao, Baodong Sun, Priya S Kishnani
A major obstacle to enzyme replacement therapy (ERT) with recombinant human acid-α-glucosidase (rhGAA) for Pompe disease is the development of high titers of anti-rhGAA antibodies in a subset of patients, which often leads to a loss of treatment efficacy. In an effort to induce sustained immune tolerance to rhGAA, we supplemented the rhGAA therapy with a weekly intravenous injection of synthetic vaccine particles carrying rapamycin (SVP-Rapa) during the first 3 weeks of a 12-week course of ERT in GAA-KO mice, and compared this with three intraperitoneal injections of methotrexate (MTX) per week for the first 3 weeks...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28758396/impact-of-lca-associated-e14l-lrat-mutation-on-protein-stability-and-retinoid-homeostasis
#9
Sylwia Chelstowska, Made Airanthi K Widjaja-Adhi, Josie A Silvaroli, Marcin Golczak
Vitamin A (all-trans-retinol) is metabolized to the visual chromophore (11-cis-retinal) in the eyes and to all-trans-retinoic acid, a hormone like compound, in most tissues. A key enzyme in retinoid metabolism is lecithin:retinol acyltransferase (LRAT), which catalyzes the esterification of vitamin A. The importance of LRAT is indicated by pathogenic missense and nonsense mutations, which cause devastating blinding diseases. Retinoid-based chromophore replacement therapy has been proposed as treatment for these types of blindness based on studies in LRAT null mice...
August 15, 2017: Biochemistry
https://www.readbyqxmd.com/read/28756410/reduction-of-podocyte-globotriaosylceramide-content-in-adult-male-patients-with-fabry-disease-with-amenable-gla-mutations-following-6-months-of-migalastat-treatment
#10
Michael Mauer, Alexey Sokolovskiy, Jay A Barth, Jeffrey P Castelli, Hadis N Williams, Elfrida R Benjamin, Behzad Najafian
OBJECTIVE: Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme replacement therapy (ERT). Migalastat, an orally bioavailable small molecule capable of chaperoning misfolded αGal-A to lysosomes, is approved in the European Union for the long-term treatment of patients with Fabry disease and amenable GLA (α-galactosidase A enzyme) mutations...
July 29, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28754168/improvement-of-bone-mineral-density-after-enzyme-replacement-therapy-in-chinese-late-onset-pompe-disease-patients
#11
Bun Sheng, Yim Pui Chu, Wa Tai Wong, Eric Kin Cheong Yau, Sammy Pak Lam Chen, Wing Hang Luk
OBJECTIVE: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. In this report we described our early observations on the change of BMD after ERT in Chinese LOPD patients...
July 28, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28750802/modeling-neurodegenerative-disorders-for-developing-cannabinoid-based-neuroprotective-therapies
#12
Javier Fernández-Ruiz, María Gómez-Ruiz, Concepción García, Mariluz Hernández, José A Ramos
The increase in lifespan during the last 50 years, mainly in developed countries, has originated a progressive elevation in the incidence of chronic neurodegenerative disorders, for which aging is the key risk factor. This fact will definitively become the major biomedical challenge during the present century, in part because the expectation of a persisting elevation in the population older than 65 years over the whole population and, on the other hand, because the current lack of efficacious therapies to control these disorders despite years of intense research...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28748310/long-term-outcome-of-adenosine-deaminase-deficient-patients-a-single-center-experience
#13
Ori Scott, Vy Hong-Diep Kim, Brenda Reid, Anne Pham-Huy, Adelle R Atkinson, Alessandro Aiuti, Eyal Grunebaum
PURPOSE: Inherited defects in the adenosine deaminase (ADA) enzyme can cause severe combined immune deficiency (SCID) and systemic abnormalities. Management options for ADA-deficient patients include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy (GT). Here, we describe the long-term benefits of these treatments. METHODS: Survival, infections, systemic sequelae, and laboratory assessments were recorded for all ADA-deficient SCID patients, managed at a single center since 1985, who survived 5 or more years following treatment...
July 26, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28747058/pancreatic-enzyme-replacement-therapy-in-cystic-fibrosis-dose-variability-and-coefficient-of-fat-absorption
#14
Joaquim Calvo-Lerma, Sandra Martínez-Barona, Etna Masip, Victoria Fornés, Carmen Ribes-Koninckx
OBJECTIVES: Pancreatic enzyme replacement therapy (PERT) remains a backbone in the nutritional treatment of cystic fibrosis. Currently, there is a lack of an evidence-based tool that allows dose adjustment. To date, no studies have found an association between PERT dose and fat absorption. Therefore, the aim of the study was to assess the influence of both the PERT dose and the variability in this dose on the coefficient of fat absorption (CFA). METHODS: This is a retrospective longitudinal study of 16 pediatric patients (192 food records) with three consecutive visits to the hospital over a twelve-month period...
July 27, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28745569/fabry-nephropathy
#15
Prudence Colpart, Sophie Félix
Fabry disease is a rare X-linked recessive lysosomal storage disease. Multiple mutations of the GLA gene lead to a deficient or absent activity of the lysosomal enzyme α-galactosidase A, resulting in progressive glycotriaosylceramide accumulation in many organs. Low α-galactosidase A activity and mutations in the GLA gene confirm the diagnosis. Clinical signs are multisystemic, heterogeneous, and progressive. Renal, cardiac, and neurovascular involvements are the main life-threatening complications, highlighting the importance of an early initiation of enzyme replacement therapy improving long-term outcome...
August 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28742806/long-term-follow-up-of-pulmonary-function-in-fabry-disease-a-bi-center-observational-study
#16
Daniel P Franzen, Albina Nowak, Sarah R Haile, Dominique Mottet, Marco Bonani, Olivier Dormond, Malcolm Kohler, Pierre A Krayenbuehl, Frederic Barbey
INTRODUCTION: Fabry disease (FD) is a lysosomal storage disorder leading to decreased α-galactosidase A enzyme activity and subsequent abnormal accumulation of glycosphingolipids in various organs. Although histological evidence of lung involvement has been demonstrated, the functional impact of these changes is less clear. MATERIALS AND METHODS: Adult patients with FD who had yearly pulmonary function tests (PFT) at two centers from 1999 thru 2015 were eligible for this observational study...
2017: PloS One
https://www.readbyqxmd.com/read/28736719/lipid-profile-in-adult-patients-with-fabry-disease-ten-year-follow-up
#17
Karolina M Stepien, Chris J Hendriksz
BACKGROUND: Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes vasculature associated complications. Hyperlipidaemia is one of the cardiovascular risk factors however it has never been well defined in Fabry disease. Enzyme Replacement Therapy (ERT) is available but its effect on serum cholesterol is unknown. The aim of this project was to assess the influence of long-term ERT on lipid profile in a large cohort of adult patients with Fabry disease...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28736525/pharmaceutical-chaperones-and-proteostasis-regulators-in-the-therapy-of-lysosomal-storage-disorders-current-perspective-and-future-promises
#18
REVIEW
Fedah E Mohamed, Lihadh Al-Gazali, Fatma Al-Jasmi, Bassam R Ali
Different approaches have been utilized or proposed for the treatment of lysosomal storage disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant therapies, both aiming to compensate for the enzymatic loss of the underlying mutated lysosomal enzymes. However, these approaches have their own limitations and therefore the vast majority of LSDs are either still untreatable or their treatments are inadequate. Missense mutations affecting enzyme stability, folding and cellular trafficking are common in LSDs resulting often in low protein half-life, premature degradation, aggregation and retention of the mutant proteins in the endoplasmic reticulum...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28735900/treatment-with-enzyme-replacement-therapy-during-pregnancy-in-a-patient-with-pompe-disease
#19
Merete Holbeck-Brendel, Birgitte Klindt Poulsen
Pregnancy is in general physically demanding, even more so for women with hereditary muscular diseases (HMDs). With increasing numbers of women with HMD reaching reproductive age, there is a growing need for research into what impact pregnancy can have on their clinical condition. A 25-year-old woman was diagnosed with Pompe disease at the age of 22 and began enzyme replacement therapy (ERT) right away. At the age of 25 she became pregnant. ERT was paused during the first trimester and recommenced throughout the second and third trimesters...
July 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28735575/negotiating-the-complexities-of-exocrine-and-endocrine-dysfunction-in-chronic-pancreatitis
#20
Sinead N Duggan
Chronic pancreatitis is a chronic inflammatory disease of the pancreas characterised by irreversible morphological change and typically causing pain and/or permanent loss of function. This progressive, irreversible disease results in destruction of healthy pancreatic tissue and the development of fibrous scar tissue. Gradual loss of exocrine and endocrine function follows, along with clinical manifestations such as steatorrhoea, abdominal pain and diabetes. Nutrition in chronic pancreatitis has been described as a problem area and, until recently, there was little research on the topic...
July 24, 2017: Proceedings of the Nutrition Society
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