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https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#1
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27888626/interleukin-18-deteriorates-fabry-cardiomyopathy-and-contributes-to-the-development-of-left-ventricular-hypertrophy-in-fabry-patients-with-gla-ivs4-919-g-a-mutation
#2
Yueh Chien, Chian-Shiu Chien, Huai-Chih Chiang, Wei-Lin Huang, Shih-Jie Chou, Wei-Chao Chang, Yuh-Lih Chang, Hsin-Bang Leu, Kuan-Hsuan Chen, Kang-Ling Wang, Ying-Hsiu Lai, Yung-Yang Liu, Kai-Hsi Lu, Hsin-Yang Li, Yen-Jen Sung, Yuh-Jyh Jong, Yann-Jang Chen, Chung-Hsuan Chen, Wen-Chung Yu
RATIONALE: A high incidence of GLA IVS4+919 G>A mutation in patients with Fabry disease of the later-onset cardiac phenotype, has been reported in Taiwan. However, suitable biomarkers or potential therapeutic surrogates for Fabry cardiomyopathy (FC) in such patients under enzyme replacement treatment (ERT) remain unknown. OBJECTIVE: Using FC patients carrying IVS4+919 G>A mutation, we constructed an induced pluripotent stem cell (iPSC)-based disease model to investigate the pathogenetic biomarkers and potential therapeutic targets in ERT-treated FC...
November 24, 2016: Oncotarget
https://www.readbyqxmd.com/read/27886142/gender-differences-in-the-application-of-spanish-criteria-for-initiation-of-enzyme-replacement-therapy-for-fabry-disease-in-the-fabry-outcome-survey
#3
Miguel-Ángel Barba-Romero, Guillem Pintos-Morell
Both male/female patients with Fabry disease (FD) may receive enzyme replacement therapy (ERT). Previously published analyses of the Fabry Outcome Survey (FOS; Shire-sponsored) database suggested gender differences in timing of ERT initiation. We assessed alignment of criteria for ERT initiation in the Spanish adult population included in FOS with recommendations of a Spanish national consensus. This retrospective analysis examined baseline clinical data of 88 adults (49 females) enrolled in the FOS database up to August 2014...
November 24, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27876360/the-role-of-high-density-lipoprotein-in-type-1-gaucher-disease
#4
Salmas Watad, Niroz Abu-Saleh, Awni Yousif, Abed Agbaria, Hanna Rosenbaum
Type I Gaucher Disease (GD1) is known to be associated with hypocholesterolemia and reduced levels of low density lipoprotein (LDL) and high density lipoprotein (HDL). In this study we aimed to correlate disease severity with HDL levels and to evaluate the effect of enzyme replacement therapy (ERT) on HDL levels as well as estimating the frequency of cardiovascular events in GD. Two groups of GD1 patients were evaluated: 30 untreated and 36 patients on ERT. Disease severity, biomarkers of GD and lipid levels were evaluated in the two groups...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27872820/nine-year-experience-in-gaucher-disease-diagnosis-at-the-spanish-reference-center-fundaci%C3%A3-n-jim%C3%A3-nez-d%C3%A3-az
#5
N V Ortiz-Cabrera, J Gallego-Merlo, C Vélez-Monsalve, R de Nicolas, S Fontao Mas, C Ayuso, M J Trujillo-Tiebas
BACKGROUND: Fundación Jiménez Díaz (FJD) is a reference center for genetic diagnosis of Gaucher disease (GD) in Spain. Genetic analyses of acid β-glucosidase (GBA) gene using different techniques were performed to search for new mutations, in addition to those previously and most frequently found in the Spanish population. Additionally, the study of the chitotriosidase (CHIT1) gene was used to assess the inflammatory status of patients in the follow-up of enzyme replacement therapy (ERT)...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27866810/histological-characterisation-of-visceral-changes-in-a-patient-with-type-2-gaucher-disease-treated-with-enzyme-replacement-therapy
#6
Yuko Tezuka, Mitsumasa Fukuda, Shohei Watanabe, Takeshi Nakano, Kentaro Okamoto, Kazuyo Kuzume, Yoshiaki Yano, Mariko Eguchi, Minenori Ishimae, Eiichi Ishii, Tatsuhiko Miyazaki
Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase and accumulation of glucocerebroside. Three major sub-types have been described, type 2 is an acute neurological form that exhibits serious general symptoms and poor prognosis, compared with the other types. This case was a girl diagnosed with type 2 Gaucher disease at 12months of age who presented with poor weight gain from infancy, stridor, hypertonia, hepatosplenomegaly, trismus and an eye movement disorder. Enzyme replacement therapy (ERT) was administered, but she had frequent myoclonus and developmental regression...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27862019/bent-spine-syndrome-as-the-initial-symptom-of-late-onset-pompe-disease
#7
Nicolas Taisne, Claude Desnuelle, Raul Juntas Morales, Xavier Ferrer Monasterio, Sabrina Sacconi, Fanny Duval, Guilhem Sole, René Marc Flipo, Arnaud Lacour, Patrick Vermersch, Thierry Cardon
INTRODUCTION: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available. METHODS: Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases. RESULTS: The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years)...
November 15, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27836529/twelve-years-of-experience-with-miglustat-in-the-treatment-of-type-1-gaucher-disease-the-spanish-zagal-project
#8
Pilar Giraldo, Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Koldo Atutxa, Antonio Acedo, Abelardo Barez, Margarita Blanes, Vicente Diaz-Morant, Ma Angeles Fernández-Galán, Rafael Franco, Cristina Gil-Cortes, Vicente Giner, Angela Ibañez, Paz Latre, Ines Loyola, Elisa Luño, Roberto Hernández-Martin, Blanca Medrano-Engay, José Puerta, Inmaculada Roig, Javier de la Serna, Olga Salamero, Lucia Villalón, Miguel Pocovi
We report data from a prospective, observational study (ZAGAL) evaluating miglustat 100mg three times daily orally. in treatment-naïve patients and patients with type 1 Gaucher Disease (GD1) switched from previous enzyme replacement therapy (ERT). Clinical evolution, changes in organ size, blood counts, disease biomarkers, bone marrow infiltration (S-MRI), bone mineral density by broadband ultrasound densitometry (BMD), safety and tolerability annual reports were analysed. Between May 2004 and April 2016, 63 patients received miglustat therapy; 20 (32%) untreated and 43 (68%) switched...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27834756/oral-pharmacological-chaperone-migalastat-compared-with-enzyme-replacement-therapy-in-fabry-disease-18-month-results-from-the-randomised-phase-iii-attract-study
#9
Derralynn A Hughes, Kathleen Nicholls, Suma P Shankar, Gere Sunder-Plassmann, David Koeller, Khan Nedd, Gerard Vockley, Takashi Hamazaki, Robin Lachmann, Toya Ohashi, Iacopo Olivotto, Norio Sakai, Patrick Deegan, David Dimmock, François Eyskens, Dominique P Germain, Ozlem Goker-Alpan, Eric Hachulla, Ana Jovanovic, Charles M Lourenco, Ichiei Narita, Mark Thomas, William R Wilcox, Daniel G Bichet, Raphael Schiffmann, Elizabeth Ludington, Christopher Viereck, John Kirk, Julie Yu, Franklin Johnson, Pol Boudes, Elfrida R Benjamin, David J Lockhart, Carrolee Barlow, Nina Skuban, Jeffrey P Castelli, Jay Barth, Ulla Feldt-Rasmussen
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking. METHODS: The main objective of the 18-month, randomised, active-controlled ATTRACT study was to assess the effects of migalastat on renal function in patients with Fabry disease previously treated with ERT...
November 10, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27831918/17%C3%AE-estradiol-suppresses-visceral-adipogenesis-and-activates-brown-adipose-tissue-specific-gene-expression
#10
Saad Misfer Al-Qahtani, Galyna Bryzgalova, Ismael Valladolid-Acebes, Marion Korach-André, Karin Dahlman-Wright, Suad Efendić, Per-Olof Berggren, Neil Portwood
Both functional ovaries and estrogen replacement therapy (ERT) reduce the risk of type 2 diabetes (T2D). Understanding the mechanisms underlying the antidiabetic effects of 17β-estradiol (E2) may permit the development of a molecular targeting strategy for the treatment of metabolic disease. This study examines how the promotion of insulin sensitivity and weight loss by E2 treatment in high-fat-diet (HFD)-fed mice involve several anti-adipogenic processes in the visceral adipose tissue. Magnetic resonance imaging (MRI) revealed specific reductions in visceral adipose tissue volume in HFD+E2 mice, compared with HFD mice...
November 10, 2016: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/27813676/differential-gene-dosage-effects-of-diabetes-associated-gene-glis3-in-pancreatic-%C3%AE-cell-differentiation-and-function
#11
Yisheng Yang, Sean P Bush, Xianjie Wen, Wei Cao, Lawrence Chan
Mutations of GLI-similar 3 (GLIS3) underlie a neonatal diabetes syndrome. Genome-wide association studies revealed that GLIS3 variants are associated with both common type 1 and type 2 diabetes. Global Glis3-deficient (Glis3(-/-)) mice die of severe diabetes shortly after birth. GLIS3 controls islet differentiation by transactivating neurogenin 3 (Ngn3). To unravel the function of Glis3 in adults, we generated inducible global Glis3-deficient mice (Glis3(fl/fl)/RosaCre(ERT2)). Tamoxifen (TAM)-treated Glis3(fl/fl)/RosaCre(ERT2) mice developed severe diabetes, which was reproduced in TAM-treated β cell-specific Glis3(fl/fl)/Pdx1Cre(ERT) mice, but not in TAM-treated Glis3(fl/fl)/MipCre(ERT) mice...
November 4, 2016: Endocrinology
https://www.readbyqxmd.com/read/27812025/long-term-exposure-to-myozyme-results-in-a-decrease-of-anti-drug-antibodies-in-late-onset-pompe-disease-patients
#12
Elisa Masat, Pascal Laforêt, Marie De Antonio, Guillaume Corre, Barbara Perniconi, Nadjib Taouagh, Kuberaka Mariampillai, Damien Amelin, Wladimir Mauhin, Jean-Yves Hogrel, Catherine Caillaud, Giuseppe Ronzitti, Francesco Puzzo, Klaudia Kuranda, Pasqualina Colella, Roberto Mallone, Olivier Benveniste, Federico Mingozzi
Immunogenicity of recombinant human acid-alpha glucosidase (rhGAA) in enzyme replacement therapy (ERT) is a safety and efficacy concern in the management of late-onset Pompe disease (LOPD). However, long-term effects of ERT on humoral and cellular responses to rhGAA are still poorly understood. To better understand the impact of immunogenicity of rhGAA on the efficacy of ERT, clinical data and blood samples from LOPD patients undergoing ERT for >4 years (n = 28) or untreated (n = 10) were collected and analyzed...
November 4, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27806790/-clinical-observation-on-human-alpha-glucosidase-in-treatment-of-five-patients-with-glycogen-storage-disease-%C3%A2
#13
L L Xu, L D Zhang, Y J Liang, W Tang, X Q Huang, Y X Pei, Y C Cheng, H M Huang, C Zhang
Objective: To evaluate the effect of enzyme replacement therapy (ERT) on glycogen storage disease typeⅡ(GSDⅡ). Method: The clinical data of three juvenile onset and two infant onset GSDⅡpatients were collected from First Affiliated Hospital of Sun Yat-sen University in October 2015 to July 2016.Patient 1 was female, the age of onset was 15 months. Patient 2 was male, the age of onset was 20 months. Patient 3 was female, the sister of patient 2, the age of onset was 47 months. Patient 4 was male, the age of onset was 5 months...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27789297/antibodies-that-neutralize-cellular-uptake-of-elosulfase-alfa-are-not-associated-with-reduced-efficacy-or-pharmacodynamic-effect-in-individuals-with-morquio-a-syndrome
#14
Andrew Melton, Russell Soon, Troy Tompkins, Brian Long, Becky Schweighardt, Yulan Qi, Catherine Vitelli, Anil Bagri, Celeste Decker, Charles A O'Neill, Stephen J Zoog, Lynne Jesaitis
Many enzyme replacement therapies (ERTs) for lysosomal storage disorders use the cell-surface cation-independent mannose-6 phosphate receptor (CI-M6PR) to deliver ERTs to the lysosome. However, neutralizing antibodies (NAb) may interfere with this process. We previously reported that most individuals with Morquio A who received elosulfase alfa in the phase 3 MOR-004 trial tested positive for NAbs capable of interfering with binding to CI-M6PR ectodomain in an ELISA-based assay. However, no correlation was detected between NAb occurrence and clinical efficacy or pharmacodynamics...
October 24, 2016: Journal of Immunological Methods
https://www.readbyqxmd.com/read/27776504/a-quasi-randomized-feasibility-pilot-study-of-specific-treatments-to-improve-emotion-recognition-and-mental-state-reasoning-impairments-in-schizophrenia
#15
Pamela Jane Marsh, Vince Polito, Subba Singh, Max Coltheart, Robyn Langdon, Anthony W Harris
BACKGROUND: Impaired ability to make inferences about what another person might think or feel (i.e., social cognition impairment) is recognised as a core feature of schizophrenia and a key determinant of the poor social functioning that characterizes this illness. The development of treatments to target social cognitive impairments as a causal factor of impaired functioning in schizophrenia is of high priority. In this study, we investigated the acceptability, feasibility, and limited efficacy of 2 programs targeted at specific domains of social cognition in schizophrenia: "SoCog" Mental-State Reasoning Training (SoCog-MSRT) and "SoCog" Emotion Recognition Training (SoCog-ERT)...
October 24, 2016: BMC Psychiatry
https://www.readbyqxmd.com/read/27774754/impact-of-elosulfase-alfa-in-patients-with-morquio-a-syndrome-who-have-limited-ambulation-an-open-label-phase-2-study
#16
Paul R Harmatz, Eugen Mengel, Tarekegn Geberhiwot, Nicole Muschol, Christian J Hendriksz, Barbara K Burton, Elisabeth Jameson, Kenneth I Berger, Andrea Jester, Marsha Treadwell, Zlatko Sisic, Celeste Decker
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test. Patients received elosulfase alfa 2.0 mg/kg/week intravenously for 48 weeks. Efficacy measures were functional dexterity, pinch/grip strength, mobility in a modified timed 25-foot walk, pain, quality of life, respiratory function, and urine keratan sulfate (KS). Safety/tolerability was also assessed...
October 24, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27774736/design-of-potent-mannose-6-phosphate-analogues-for-the-functionalization-of-lysosomal-enzymes-to-improve-the-treatment-of-pompe-disease
#17
Khaled El Cheikh, Ilaria Basile, Afitz Da Silva, Coralie Bernon, Pierre Cérutti, Frédéric Salgues, Marc Perez, Marie Maynadier, Magali Gary-Bobo, Catherine Caillaud, Martine Cérutti, Marcel Garcia, Alain Morère
Improving therapeutics delivery in enzyme replacement therapy (ERT) for lysosomal storage disorders is a challenge. Herein, we present the synthesis of novel analogues of mannose 6-phosphate (M6P), known as AMFAs and functionalized at the anomeric position for enzyme grafting. AMFAs are non-phosphate serum-resistant derivatives that efficiently bind the cation-independent mannose 6-phosphate receptor (CI-M6PR), which is the main pathway to address enzymes to lysosomes. One of the AMFAs was used to improve the treatment of the lysosomal myopathy Pompe disease, in which acid α-glucosidase (GAA) is defective...
November 14, 2016: Angewandte Chemie
https://www.readbyqxmd.com/read/27768005/the-effects-of-labisia-pumila-extracts-on-bone-microarchitecture-of-ovariectomized-induced-osteoporosis-rats-a-micro-ct-analysis
#18
Nadia Mohd Effendy, Mohd Fadhli Khamis, Ahmad Nazrun Shuid
BACKGOUND: Labisia pumila (LP) is a popular herb used by women over the past few decades. This herb has shown potentials as an alternative agent for treatment and prevention of postmenopausal osteoporosis. It was observed in previous studies that supplementation to ovariectomized rats were associated with increased bone antioxidative enzymes and reduced lipid peroxidation activity. It had also improved bone formation markers in ovariectomized rats. This study aimed to evaluate the effects of giving different forms of LP extracts on the trabecular bone microarchitecture of ovariectomised rats...
October 21, 2016: Journal of X-ray Science and Technology
https://www.readbyqxmd.com/read/27761411/30-months-follow-up-of-an-early-enzyme-replacement-therapy-in-a-severe-morquio-a-patient-about-one-case
#19
J Do Cao, A Wiedemann, T Quinaux, S F Battaglia-Hsu, L Mainard, R Froissart, C Bonnemains, S Ragot, B Leheup, P Journeau, F Feillet
: Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months. Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27756537/differences-in-cleavage-of-globotriaosylceramide-and-its-derivatives-accumulated-in-organs-of-young-fabry-mice-following-enzyme-replacement-therapy
#20
Takashi Kodama, Takahiro Tsukimura, Ikuo Kawashima, Atsuko Sato, Hitoshi Sakuraba, Tadayasu Togawa
In Fabry disease, large amounts of globotriaosylceramide (Gb3) and related glycosphingolipids accumulate in organs due to a deficiency of α-galactosidase A (GLA) activity. Enzyme replacement therapy (ERT) with recombinant GLA is now available, and it has been reported that ERT is beneficial for patients with Fabry disease, especially those who start treatment at an early stage of the disease. However, it seems that the efficacy of ERT differs with each organ, and Gb3 accumulated in the kidneys shows resistance to ERT when it is started at a late stage...
October 12, 2016: Molecular Genetics and Metabolism
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