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https://www.readbyqxmd.com/read/28643276/a-rapid-two-step-iduronate-2-sulfatatse-enzymatic-activity-assay-for-mpsii-pharmacokinetic-assessment
#1
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
#2
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
https://www.readbyqxmd.com/read/28619065/open-issues-in-mucopolysaccharidosis-type-i-hurler
#3
REVIEW
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2-2...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28618999/biomarkers-for-diagnosing-and-staging-of-fabry-disease
#4
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/28617248/young-s-modulus-and-indirect-morphological-analysis-of-bi2se3-nanoribbons-by-resonance-measurements
#5
Jelena Kosmaca, Liga Jasulaneca, Raimonds Meija, Jana Andzane, Marina Romanova, Gunta Kunakova, Donats Erts
An electrostatically induced resonance behaviour of individual topological insulator Bi<sub>2</sub>Se<sub>3</sub> nanoribbons grown by a catalyst free vapour-solid synthesis was studied <i>in-situ</i> by scanning electron microscopy. It was demonstrated that the relation between the resonant frequencies of vibrations in orthogonal planes can be applied to distinguish the nanoribbons with rectangular cross-sections from the nanoribbons having step-like morphology (terraces)...
June 15, 2017: Nanotechnology
https://www.readbyqxmd.com/read/28611151/fate-mapping-neurons-and-glia-derived-from-dbx1-expressing-progenitors-in-mouse-preb%C3%A3-tzinger-complex
#6
Andrew Kottick, Caroline A Martin, Christopher A Del Negro
The brainstem preBötzinger complex (preBötC) generates the inspiratory breathing rhythm, and its core rhythmogenic interneurons are derived from Dbx1-expressing progenitors. To study the neural bases of breathing, tamoxifen-inducible Cre-driver mice and Cre-dependent reporters are used to identify, record, and perturb Dbx1 preBötC neurons. However, the relationship between tamoxifen administration and reporter protein expression in preBötC neurons and glia has not been quantified. To address this problem, we crossed mice that express tamoxifen-inducible Cre recombinase under the control of the Dbx1 gene (Dbx1(Cre)(ERT)(2)) with Cre-dependent fluorescent reporter mice (Rosa26(tdTomato)), administered tamoxifen at different times during development, and analyzed tdTomato expression in the preBötC of their offspring...
June 2017: Physiological Reports
https://www.readbyqxmd.com/read/28610913/correlation-between-urinary-gag-and-anti-idursulfase-ert-neutralizing-antibodies-during-treatment-with-nicit-immune-tolerance-regimen-a-case-report
#7
Sarah Kim, Chester B Whitley, Jeanine R Jarnes Utz
INTRODUCTION: Antibodies to intravenous idursulfase enzyme replacement therapy (ERT) for patients with Hunter syndrome (mucopolysaccharidosis type II, MPS II) can have a harmful clinical impact, including both increasing risk of infusion reactions and inhibiting therapeutic activity. Thus, failure to monitor anti-idursulfase antibodies and neutralizing antibodies, and delays in reporting results, may postpone critical clinical decisions. HYPOTHESIS: Urinary glycosaminoglycan (GAG) levels may be used as a biomarker for anti-idursulfase antibodies and neutralizing antibodies to improve timeliness in monitoring and managing ERT...
June 3, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28603679/galactosialidosis-historic-aspects-and-overview-of-investigated-and-emerging-treatment-options
#8
Ida Annunziata, Alessandra d'Azzo
INTRODUCTION: Galactosialidosis is a glycoprotein storage disease caused by mutations in the CTSA gene, encoding lysosomal protective protein/cathepsin A (PPCA). The enzyme's catalytic activity is distinct from its protective function towards β-galactosidase (β-GAL) and neuraminidase 1 (NEU1), with which PPCA forms a complex. In this configuration the two glycosidases acquire their full activity and stability in lysosomes. Deficiency of PPCA results in combined NEU1/β-GAL deficiency...
2017: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/28601129/fabry-disease-diagnostic-methods-in-nephrology-practice
#9
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/28593894/5th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-15th-2016
#10
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The fifth SEE meeting on rare diseases (RDs) was held in Macedonian Academy of Sciences and Arts (MASA) the November 11th, 2016. Several lectures dealt with mucopolysaccharidosis, glycogen storage diseases and the possibilities for their diagnosis and treatment. Enzyme replacement treatment (ERT), its availability, effects (or the lack of it) on the brain, and further prospects of eventual gene treatment were comprehensively exposed and discussed. Special accent was on Gaucher, Morquio IVA, Hunter and the audience was given new knowledge on the complexities of diagnosis and treatment...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28592778/diagnostic-and-therapeutic-strategies-for-acute-intracranial-atherosclerosis-related-occlusions
#11
REVIEW
Jin Soo Lee, Ji Man Hong, Jong S Kim
Intracranial atherosclerosis-related occlusion (ICAS-O) is frequently encountered at the time of endovascular revascularization treatment (ERT), especially in Asian countries. However, because baseline angiographic findings are similar between ICAS-O and embolism-related occlusion (EMB-O), it is difficult to differentiate the etiologies before the ERT procedure. Moreover, despite successful randomized trials on ERT, results from studies examining the optimal treatment protocol in ICAS-O patients remain unclear...
May 2017: Journal of Stroke
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
#12
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/28574618/effects-of-short-to-long-term-enzyme-replacement-therapy-ert-on-skeletal-muscle-tissue-in-late-onset-pompe-disease-lopd
#13
Michela Ripolone, Raffaella Violano, Dario Ronchi, Stefania Mondello, Annachiara Nascimbeni, Irene Colombo, Gigliola Fagiolari, Andreina Bordoni, Francesco Fortunato, Valeria Lucchini, Simona Saredi, Massimiliano Filosto, Olimpia Musumeci, Paola Tonin, Tiziana Mongini, Stefano Previtali, Lucia Morandi, Corrado Angelini, Marina Mora, Marco Sandri, Monica Sciacco, Antonio Toscano, Giacomo P Comi, Maurizio Moggio
AIMS: Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α-glucosidase (GAA) enzyme. Histopathological hallmarks in skeletal muscle tissue are fiber vacuolization and autophagy. Since 2006, ERT is the only approved treatment with human recombinant GAA alglucosidase alfa. We designed a study to examine ERT-related skeletal muscle changes in 18 modestly to moderately affected LOPD patients along with the relationship between morphological/biochemical changes and clinical outcomes...
June 2, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28570076/insight-into-the-complexity-of-the-i-motif-and-g-quadruplex-dna-structures-formed-in-the-kras-promoter-and-subsequent-drug-induced-gene-repression
#14
Christine E Kaiser, Natalie A Van Ert, Prashansa Agrawal, Reena Chawla, Danzhou Yang, Laurence H Hurley
Activating KRAS mutations frequently occur in pancreatic, colorectal, and lung adenocarcinomas. While many attempts have been made to target oncogenic KRAS, no clinically useful therapies currently exist. Most efforts to target KRAS have focused on inhibiting the mutant protein; a less explored approach involves targeting KRAS at the transcriptional level. The promoter element of the KRAS gene contains a GC-rich nuclease hypersensitive site with three potential DNA secondary structure-forming regions. These are referred to as the Near-, Mid-, and Far-regions, on the basis of their proximity to the transcription start site...
June 15, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28569047/transformation-in-pre-treatment-manifestations-of-gaucher-disease-type-1-during-two-decades-of-alglucerase-imiglucerase-enzyme-replacement-therapy-in-the-international-collaborative-gaucher-group-icgg-registry
#15
Pramod K Mistry, Julie L Batista, Hans C Andersson, Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Paige Kaplan, Aneal Khan, Priya S Kishnani, Edwin H Kolodny, Barry Rosenbloom, C Ronald Scott, Neal Weinreb
This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase-treated GD1 patients from the International Collaborative Gaucher Group Gaucher Registry were stratified by age at ERT initiation (<18, 18 to <50, ≥50 years), era of ERT initiation (1991-1995, 1996-2000, 2001-2005, 2006-2009), and splenectomy status pre-ERT...
May 31, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28566747/novel-locally-active-estrogens-accelerate-cutaneous-wound-healing-part-2
#16
Mario Brufani, Nicoletta Rizzi, Clara Meda, Luigi Filocamo, Francesca Ceccacci, Virginia D'Aiuto, Gabriele Bartoli, Angela La Bella, Luisa M Migneco, Rinaldo Marini Bettolo, Francesca Leonelli, Paolo Ciana, Adriana Maggi
Estrogen deprivation is associated with delayed healing, while estrogen replacement therapy (ERT) accelerates acute wound healing and protects against development of chronic wounds. However, current estrogenic molecules have undesired systemic effects, thus the aim of our studies is to generate new molecules for topic administration that are devoid of systemic effects. Following a preliminary study, the new 17β-estradiol derivatives 1 were synthesized. The estrogenic activity of these novel compounds was evaluated in vitro using the cell line ERE-Luc B17 stably transfected with an ERE-Luc reporter...
May 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28560469/gene-therapy-for-lysosomal-storage-disorders-recent-advances-for-metachromatic-leukodystrophy-and-mucopolysaccaridosis-i
#17
REVIEW
Rachele Penati, Francesca Fumagalli, Valeria Calbi, Maria Ester Bernardo, Alessandro Aiuti
Lysosomal storage diseases (LSDs) are rare inherited metabolic disorders characterized by a dysfunction in lysosomes, leading to waste material accumulation and severe organ damage. Enzyme replacement therapy (ERT) and haematopoietic stem cell transplant (HSCT) have been exploited as potential treatments for LSDs but pre-clinical and clinical studies have shown in some cases limited efficacy. Intravenous ERT is able to control the damage of visceral organs but cannot prevent nervous impairment. Depending on the disease type, HSCT has important limitations when performed for early variants, unless treatment occurs before disease onset...
May 30, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28554216/nanoparticulation-improves-bioavailability-of-erlotinib
#18
Kyung Mi Yang, In Chul Shin, Joo Won Park, Kab-Sig Kim, Dae Kyong Kim, Kyungmoon Park, Kunhong Kim
OBJECTIVES: Nanoparticulation using fat and supercritical fluid (NUFS(TM)) is a drug delivery platform technology enabling efficient and effective formulation of poorly soluble drugs. We performed experiments to examine whether NUFS™ could improve poor bioavailability and reduce fed-fasted bioavailability variances of erlotinib (Ert). METHODS: NUFS-Ert was prepared using NUFS™ technology; its physical properties were characterized, and drug release was measured...
May 30, 2017: Drug Development and Industrial Pharmacy
https://www.readbyqxmd.com/read/28552677/a-long-term-follow-up-study-of-the-development-of-hip-disease-in-mucopolysaccharidosis-type-vi
#19
Esmee Oussoren, Johannes H J M Bessems, Virginie Pollet, Jan C van der Meijden, Lianne J van der Giessen, Iris Plug, Annick S Devos, George J G Ruijter, Ans T van der Ploeg, Mirjam Langeveld
Hip problems in Mucopolysaccharidosis type VI (MPS VI) lead to severe disability. Lack of data on the course of hip disease in MPS VI make decisions regarding necessity, timing and type of surgical intervention difficult. We therefore studied the development of hip pathology in MPS VI patients over time. Data were collected as part of a prospective follow-up study. Standardized supine AP pelvis and frog leg lateral radiographs of both hips were performed yearly or every 2years. Image assessment was performed quantitatively (angle measurements) and qualitatively (hip morphology)...
May 19, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28545984/efficacy-and-safety-of-de-novo-and-early-use-of-extended-release-tacrolimus-in-heart-transplantation
#20
Francisco González-Vílchez, José Luis Lambert, Diego Rangel, Luis Almenar, José Luis de la Fuente, Jesús Palomo, Beatriz Díaz Molina, Ernesto Lage, Ignacio Sánchez Lázaro, José A Vázquez de Prada
INTRODUCTION AND OBJECTIVES: The extended-release formulation of tacrolimus (ERT) allows once-daily dosage, thus simplifying the immunosuppressive regimen. This study aimed to describe the safety and efficacy of the de novo and early use of ERT in heart transplantation. METHODS: This was an observational, retrospective, multicenter study comparing the safety and efficacy of the de novo use of ERT (ERT group [n=94]), standard-release tacrolimus (SRT group [n=42]) and early conversion (EC) from SRT to ERT (EC group [n=44])...
May 22, 2017: Revista Española de Cardiología
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