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https://www.readbyqxmd.com/read/28742806/long-term-follow-up-of-pulmonary-function-in-fabry-disease-a-bi-center-observational-study
#1
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/28738393/estrogen-and-environmental-enrichment-differentially-affect-neurogenesis-dendritic-spine-immunolabeling-and-synaptogenesis-in-the-hippocampus-of-young-and-reproductively-senescent-female-rats
#2
Tina Sager, Michael Kashon, Kristine Krajnak
<br>Background: Studies examining the ability of estrogen replacement therapy (ERT) to enhance memory in women, and in animal models, have not produced consistent results. However, studies examining the effects of activity and exposure to novel environments consistently find enhancement of memory. METHODS: An animal model of reproductive aging was used to determine if estradiol (E2) replacement, activity, and/or exposure to an enriched environment could act synergistically to improve memory, and neural correlates of memory...
July 24, 2017: Neuroendocrinology
https://www.readbyqxmd.com/read/28736719/lipid-profile-in-adult-patients-with-fabry-disease-ten-year-follow-up
#3
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/28735900/treatment-with-enzyme-replacement-therapy-during-pregnancy-in-a-patient-with-pompe-disease
#4
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/28733853/cerebral-magnetic-resonance-findings-during-enzyme-replacement-therapy-in-mucopolysaccharidosis
#5
Yoshiko Matsubara, Osamu Miyazaki, Motomichi Kosuga, Torayuki Okuyama, Shunsuke Nosaka
BACKGROUND: Although enzyme replacement therapy (ERT) is an effective treatment for mucopolysaccharidosis (MPS) types I, II, IVA and VI, its effectiveness in children with central nervous system (CNS) disorders is said to be poor because the blood-brain barrier cannot be penetrated by ERT drugs. OBJECTIVE: To assess CNS involvement in mucopolysaccharidosis at the start of enzyme replacement therapy and to investigate the time course of ERT in the central nervous system...
July 21, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28726123/rapidly-progressive-white-matter-involvement-in-early-childhood-the-expanding-phenotype-of-infantile-onset-pompe
#6
A Broomfield, J Fletcher, P Hensman, R Wright, H Prunty, J Pavaine, S A Jones
Glycogen accumulation in the central nervous system of patients with classical infantile onset Pompe disease (IOPD) has been a consistent finding on the few post-mortems performed. While delays in myelination and a possible reduction in processing speed have previously been noted, it has only been recently that the potential for clinically significant progressive white matter disease has been noted. The limited reports thus far published infer that in some IOPD patients, this manifests as intellectual decline in the second decade of life...
July 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28723748/clinical-characteristics-and-mutation-spectrum-of-gla-in-korean-patients-with-fabry-disease-by-a-nationwide-survey-underdiagnosis-of-late-onset-phenotype
#7
Jin-Ho Choi, Beom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, Yoo-Mi Kim, Dae-Seong Kim, Jung Min Ko, Young Bae Sohn, Yong Hee Hong, Dong-Hwan Lee, Hoon Kook, Han Hyuk Lim, Kyung Hee Kim, Woo-Shik Kim, Geu-Ru Hong, Su-Hyun Kim, Sang Hyun Park, Chan-Duck Kim, So Mi Kim, Jeong-Sook Seo, Han-Wook Yoo
Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28720484/long-term-enzyme-replacement-therapy-improves-neurocognitive-functioning-and-hippocampal-synaptic-plasticity-in-immune-tolerant-alpha-mannosidosis-mice
#8
Stijn Stroobants, Markus Damme, Ann Van der Jeugd, Ben Vermaercke, Claes Andersson, Jens Fogh, Paul Saftig, Judith Blanz, Rudi D'Hooge
Alpha-mannosidosis is a glycoproteinosis caused by deficiency of lysosomal acid alpha-mannosidase (LAMAN), which markedly affects neurons of the central nervous system (CNS), and causes pathognomonic intellectual dysfunction in the clinical condition. Cognitive improvement consequently remains a major therapeutic objective in research on this devastating genetic error. Immune-tolerant LAMAN knockout mice were developed to evaluate the effects of enzyme replacement therapy (ERT) by prolonged administration of recombinant human enzyme...
July 15, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28704670/cryo-conditioned-rocky-coast-systems-a-case-study-from-wilczekodden-svalbard
#9
M C Strzelecki, M Kasprzak, M Lim, Z M Swirad, M Jaskólski, Ł Pawłowski, P Modzel
This paper presents the results of an investigation into the processes controlling development of a cryo-conditioned rock coast system in Hornsund, Svalbard. A suite of nested geomorphological and geophysical methods have been applied to characterise the functioning of rock cliffs and shore platforms influenced by lithological control and geomorphic processes driven by polar coast environments. Electrical resistivity tomosgraphy (ERT) surveys have been used to investigate permafrost control on rock coast dynamics and reveal the strong interaction with marine processes in High Arctic coastal settings...
July 10, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28702361/home-infusion-program-with-enzyme-replacement-therapy-for-fabry-disease-the-experience-of-a-large-italian-collaborative-group
#10
D Concolino, L Amico, M D Cappellini, E Cassinerio, M Conti, M A Donati, F Falvo, A Fiumara, M Maccarone, R Manna, A Matucci, M B Musumeci, A Nicoletti, R Nisticò, F Papadia, R Parini, D Peluso, L Pensabene, A Pisani, G Pistone, M Rigoldi, I Romani, M Tenuta, G Torti, M Veroux, E Zachara
Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28702360/treatment-of-profound-thrombocytopenia-in-a-patient-with-gaucher-disease-type-1-is-there-a-role-for-substrate-reduction-therapy
#11
Christine I Ha, Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, Priya S Kishnani
The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap in the literature regarding individual drug effectiveness in treating particular symptoms and the potential benefits of combination treatment. This report details treatment of a patient with Gaucher disease type 1 whose main clinical concern was profound thrombocytopenia (around 20 × 10(9)/L, normal range: 150-450 × 10(9)/L) with several episodes of bleeding with minimal trauma and bruises...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28699267/lucerastat-an-iminosugar-for-substrate-reduction-therapy-tolerability-pharmacodynamics-and-pharmacokinetics-in-patients-with-fabry-disease-on-enzyme-replacement
#12
N Guérard, D Oder, P Nordbeck, C Zwingelstein, O Morand, Rwd Welford, J Dingemanse, C Wanner
Lucerastat is a glucosylceramide synthase inhibitor aimed at reducing production of glycosphingolipids (GSLs), including those accumulating in Fabry disease (FD). The safety, tolerability, pharmacodynamics, and pharmacokinetics of oral lucerastat were evaluated in an exploratory study in FD patients. In this single-center, open-label, randomized study, 10 subjects received lucerastat 1000 mg b.i.d. for 12 weeks on top of enzyme replacement therapy (ERT) (lucerastat group). Four subjects with FD received ERT only...
July 12, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28688674/a-network-meta-analysis-of-the-sequencing-and-types-of-systemic-therapies-with-definitive-radiotherapy-in-locally-advanced-squamous-cell-carcinoma-of-the-head-and-neck-lascchn-%C3%A2
#13
Katarzyna J Jerzak, Keemo Delos Santos, Ronak Saluja, Kelly Lien, Justin Lee, Kelvin K W Chan
OBJECTIVES: The current standard therapy for locally advanced squamous cell carcinoma of the head and neck (LASCCHN) is platinum-based chemotherapy plus concurrent radiotherapy (CRT), but several systemic therapies have been evaluated. We performed a Bayesian network meta-analysis (NMA) with random effects to enable direct and indirect comparisons of all existing treatment modalities for LASCCHN simultaneously. MATERIAL AND METHODS: A systematic review was conducted using MEDLINE, EMBASE, ASCO abstracts, ASTRO abstracts and the Cochrane Central of Registered Trials using Cochrane methodology to identify randomized controlled trials (RCTs) up to June 2016...
August 2017: Oral Oncology
https://www.readbyqxmd.com/read/28682471/impact-of-immunosuppressive-therapy-on-therapy-neutralizing-antibodies-in-transplanted-patients-with-fabry-disease
#14
Malte Lenders, Daniel Oder, Albina Nowak, Sima Canaan-Kühl, Laila Arash-Kaps, Christiane Drechsler, Boris Schmitz, Peter Nordbeck, Julia B Hennermann, Christoph Kampmann, Stefan Reuter, Stefan-Martin Brand, Christoph Wanner, Eva Brand
BACKGROUND: Inhibitory antibodies towards enzyme replacement therapy (ERT) are associated with disease progression and poor outcome in affected male patients with lysosomal disorders such as Fabry disease (FD). However, little is known about the impact of immunosuppressive therapy on ERT inhibition in these FD patients. METHODS: In this retrospective study, we investigated the effect of long-term immunosuppression on ERT inhibition in male FD patients (n=26) receiving immunosuppressive therapy due to kidney (n=24) or heart (n=2) transplantation...
July 6, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28673849/hematopoietic-stem-cell-transplantation-for-patients-with-mucopolysaccharidosis-ii
#15
Francyne Kubaski, Hiromasa Yabe, Yasuyuki Suzuki, Toshiyuki Seto, Takashi Hamazaki, Robert W Mason, Li Xie, Tor Gunnar Hugo Onsten, Sandra Leistner-Segal, Roberto Giugliani, Vũ Chí Dũng, Can Thi Bich Ngoc, Seiji Yamaguchi, Adriana M Montaño, Kenji E Orii, Toshiyuki Fukao, Haruo Shintaku, Tadao Orii, Shunji Tomatsu
There is limited information regarding the long-term outcomes of hematopoietic stem cell transplantation (HSCT) for Mucopolysaccharidosis II (MPS II). In this study, clinical, biochemical, and radiological findings were assessed in patients who underwent HSCT and/or enzyme replacement therapy (ERT). Demographic data for 146 HSCT patients were collected from 27 new cases and 119 published cases and were compared with 51 ERT and 15 untreated cases. Glycosaminoglycan (GAG) levels were analyzed by liquid chromatography tandem mass spectrometry in blood samples from HSCT, ERT, and untreated patients as well as age-matched controls...
June 30, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28657663/next-generation-deep-sequencing-corrects-diagnostic-pitfalls-of-traditional-molecular-approach-in-a-patient-with-prenatal-onset-of-pompe-disease
#16
Anne Chun-Hui Tsai, Yu-Wen Hung, Cary Harding, David M Koeller, Jing Wang, Lee-Jun C Wong
Pompe disease is a rare inherited metabolic disorder of glycogen metabolism caused by mutations in the GAA gene, encoding the acid α-1,4 glucosidase. Successful diagnosis of Pompe disease is achieved by clinical and biochemical evaluation followed by confirmation with DNA testing. Here, we report a male infant with a prenatal onset of cardiac symptoms and enzyme testing consistent with Pompe disease, but DNA testing by Sanger sequencing revealed no pathogenic variants. Due to the strong indication from clinical, enzymatic, and histological studies (despite the absence of molecular confirmation by traditional Sanger sequencing), enzyme replacement therapy (ERT) for Pompe disease was initiated...
June 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28648664/high-dose-ivig-successfully-reduces-high-rhgaa-igg-antibody-titers-in-a-crim-negative-infantile-pompe-disease-patient
#17
Mugdha Rairikar, Zoheb B Kazi, Ankit Desai, Crista Walters, Amy Rosenberg, Priya S Kishnani
Alglucosidase alfa (rhGAA) has altered the course of an otherwise fatal outcome in classic infantile Pompe disease (IPD), which presents with cardiomyopathy and severe musculoskeletal involvement. However, the response to therapy is determined by several factors including the development of high and sustained antibody titers (HSAT) to rhGAA. Cross-reactive immunologic material (CRIM) negative patients are at the highest risk for development of HSAT. Immune tolerance induction (ITI) with methotrexate, rituximab, and intravenous immunoglobulin (IVIG) has been largely successful in preventing the immune response and in achieving tolerance when done in conjunction with enzyme replacement therapy (ERT) initiation...
May 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28648663/effect-of-enzyme-replacement-therapy-with-alglucosidase-alfa-myozyme%C3%A2-in-12-patients-with-advanced-late-onset-pompe-disease
#18
Constantinos Papadopoulos, David Orlikowski, Hélène Prigent, Arnaud Lacour, Céline Tard, Alain Furby, Julien Praline, Guilhem Solé, Jean-Yves Hogrel, Marie De Antonio, Claudio Semplicini, Joelle Deibener-Kaminsky, Pierre Kaminsky, Bruno Eymard, Nadjib Taouagh, Barbara Perniconi, Dalil Hamroun, Pascal Laforêt
BACKGROUND: The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease. METHODS: We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed) when starting ERT. Patients' medical records were collected and reviewed and respiratory and motor functions, before ERT initiation and upon last evaluation were compared...
June 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28643276/a-rapid-two-step-iduronate-2-sulfatatse-enzymatic-activity-assay-for-mpsii-pharmacokinetic-assessment
#19
Mitra Azadeh, Luying Pan, Yongchang Qiu, Ruben Boado
Clinical studies involving enzyme replacement therapies (ERTs) have increasingly utilized enzymatic activity assays to monitor efficacy and biofunction of the drug; as a result, these assays have become an important part of pharmacokinetic (PK) and pharmacodynamic assessments in ERT trials. This paper presents a two-step enzymatic activity assay for iduronate-2-sulfatase (I2S) (EC 3.1.6.13) which we have optimized to fit in 1 day and to complete in less than 6 h. The rapid assay presented here is a significant improvement over the original two-step method with run time of 24 h which spanned 2 days...
June 23, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28629821/glycogen-reduction-in-myotubes-of-late-onset-pompe-disease-patients-using-antisense-technology
#20
Elisa Goina, Paolo Peruzzo, Bruno Bembi, Andrea Dardis, Emanuele Buratti
Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c.-32-13T > G in intron 1 of the GAA gene that prevents efficient recognition of exon 2 by the spliceosome. In this study, we have mapped the splicing silencers of GAA exon 2 and developed antisense morpholino oligonucleotides (AMOs) to inhibit those regions and rescue normal splicing in the presence of the c...
June 16, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
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