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https://www.readbyqxmd.com/read/29339442/specific-substrate-for-the-assay-of-lysosomal-acid-lipase
#1
Sophia Masi, Naveen Chennamaneni, Frantisek Turecek, C Ronald Scott, Michael H Gelb
BACKGROUND: Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS). METHODS: We prepared and tested a library of analogs of palmitoyl 4-methylumbelifferyl esters to find a highly active and specific substrate for LAL in DBS. The LAL assay was optimized leading to both LC-MS/MS and fluorometric assay of LAL...
January 16, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29336994/agreement-between-the-results-of-meta-analyses-from-case-reports-and-from-clinical-studies-regarding-the-efficacy-of-laronidase-therapy-in-patients-with-mucopolysaccharidosis-type-i-who-initiated-enzyme-replacement-therapy-in-adult-age-an-example-of-case-reports
#2
REVIEW
Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Jordi Pérez-López
BACKGROUND: Case reports might have a prominent role in the rare diseases field, due to the small number of patients affected by one such disease. A previous systematic review regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I (MPS-I) who initiated enzyme replacement therapy (ERT) in adult age has been published. The review included a meta-analysis of 19 clinical studies and the description of eleven case reports. It was of interest to perform a meta-analysis of those case reports to explore the role of such meta-analyses as a tool for evidence-based medicine in rare diseases...
January 5, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29326878/ten-year-long-enzyme-replacement-therapy-shows-a-poor-effect-in-alleviating-giant-leg-ulcers-in-a-male-with-fabry-disease
#3
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- or anhidrosis, abdominal pain, cornea verticillata, early stroke, tinnitus, and/or hearing loss, during early childhood or adolescence. Moreover, proteinuria, renal impairment, and cardiac hypertrophy can appear with age...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29319374/sensitive-and-specific-assessment-of-recombinant-von-willebrand-factor-in-platelet-function-analyzer
#4
Isabell Pekrul, Thorsten Kragh, Peter L Turecek, Aaron R Novack, Helmut W Ott, Michael Spannagl
BACKGROUND: Recombinant von Willebrand factor (rVWF), which was licensed in the United States in 2015, has the multimeric distribution of freshly secreted VWF with ultralarge (UL) and high molecular weight multimers (HMWM) from endothelial cells and megakaryocytes since it has never been exposed to ADAMTS13 or any other proteolytic enzyme. Measurement of closure time (CT) using the platelet function analyzer-200 (PFA-200) is highly sensitive to the presence of UL VWF multimers in added VWF concentrates...
January 10, 2018: Platelets
https://www.readbyqxmd.com/read/29316814/biology-of-the-adrenal-gland-cortex-obviates-effective-use-of-adeno-associated-virus-vectors-to-treat-hereditary-adrenal-disorders
#5
Sandra Markmann, Bishnu P De, Jasmine Reid, Clarisse Jose, Jonathan B Rosenberg, Philip Leopold, Stephen M Kaminsky, Dolan Sondhi, Odelya E Pagovich, Ronald G Crystal
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000-1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Cardinal phenotypic features of CAH include genital ambiguity and sexual precocity, and in severe cases, neonatal salt loss and death. Current standard of care consists of life-long oral steroid replacement to reverse the cortisol deficiency. Although significant advances in the treatment of CAH have been made, the burden of a life-long therapeutic intervention is not ideal for quality of life...
January 9, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29315315/quantification-of-intramuscular-fat-in-patients-with-late-onset-pompe-disease-by-conventional-magnetic-resonance-imaging-for-the-long-term-follow-up-of-enzyme-replacement-therapy
#6
André Lollert, Clemens Stihl, Andreas M Hötker, Eugen Mengel, Jochem König, Katharina Laudemann, Seyfullah Gökce, Christoph Düber, Gundula Staatz
OBJECTIVE: The objective of this study was to evaluate a quantitative method based on conventional T1-weighted magnetic resonance (MR) imaging to assess fatty muscular degeneration in patients with late-onset Pompe disease and to compare it with semi-quantitative visual evaluation (the Mercuri score). In addition, a long-term retrospective data analysis was performed to evaluate treatment response to enzyme replacement therapy with alglucosidase alfa. METHODS: MR images of the lumbar spine were acquired in 41 patients diagnosed with late-onset Pompe disease from 2006 through 2015...
2018: PloS One
https://www.readbyqxmd.com/read/29306435/fluorescence-quenched-substrates-for-quantitative-live-cell-imaging-of-glucocerebrosidase-activity
#7
Roger A Ashmus, David L Shen, David J Vocadlo
Glucocerebrosidase (GCase) is a lysosomal glycoside hydrolase that cleaves the glycolipid glucosylceramide (GlcCer). Deficiencies of this enzyme lead to accumulation of GlcCer and the development of the lysosomal storage disease known as Gaucher's disease. Recently, loss-of-function mutations in the GBA1 gene that encodes GCase have been linked to Parkinson's disease. Currently pursued therapeutic strategies to increase GCase involve enzyme replacement therapy, chemical chaperone therapy, and GCase activators...
2018: Methods in Enzymology
https://www.readbyqxmd.com/read/29305734/olipudase-alfa-for-treatment-of-acid-sphingomyelinase-deficiency-asmd-safety-and-efficacy-in-adults-treated-for-30-months
#8
Melissa P Wasserstein, George A Diaz, Robin H Lachmann, Marie-Hélène Jouvin, Indrani Nandy, Allena J Ji, Ana Cristina Puga
Olipudase alfa, a recombinant human acid sphingomyelinase (ASM), is an enzyme replacement therapy for the treatment of nonneurologic manifestations of acid sphingomyelinase deficiency (ASMD). This ongoing, open-label, long-term study (NCT02004704) assessed safety and efficacy of olipudase alfa following 30 months of treatment in five adult patients with ASMD. There were no deaths, serious or severe events, or discontinuations during 30 months of treatment. The majority of adverse events were mild and included headache, nausea, and abdominal pain...
January 5, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29305416/involvement-of-hepcidin-in-iron-metabolism-dysregulation-in-gaucher-disease
#9
Thibaud Lefebvre, Niloofar Reihani, Raed Daher, Thierry Billette de Villemeur, Nadia Belmatoug, Christian Rose, Yves Colin-Aronovicz, Hervé Puy, Caroline Le Van Kim, Mélanie Franco, Zoubida Karim
Gaucher disease is an inherited deficiency of glucocerebrosidase leading to accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow. The resulting lipid-laden macrophages lead to the appearance of Gaucher cells. Anemia associated with an unexplained hyperferritinemia is a frequent finding in Gaucher disease, but whether this pathogenesis is related to an iron metabolism disorder has remained unclear. To investigate this issue, we explored the iron status of a large cohort of 90 type I Gaucher disease patients, including 66 patients treated with enzyme replacement therapy...
January 5, 2018: Haematologica
https://www.readbyqxmd.com/read/29302509/a-novel-homozygous-lipa-mutation-in-a-korean-child-with-lysosomal-acid-lipase-deficiency
#10
Kwang Yeon Kim, Ju Whi Kim, Kyung Jae Lee, Eunhyang Park, Gyeong Hoon Kang, Young Hun Choi, Woo Sun Kim, Jung Min Ko, Jin Soo Moon, Jae Sung Ko
Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts...
December 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29299922/stabilization-of-human-tyrosine-hydroxylase-in-maltodextrin-nanoparticles-for-delivery-to-neuronal-cells-and-tissue
#11
Maria Teresa Bezem, Fredrik Gullaksen Johannessen, Kunwar Jung-Kc, Edvin Tang Gundersen, Ana Jorge-Finnigan, Ming Ying, Didier Betbeder, Lars Herfindal, Aurora Martinez
Enzyme replacement therapy (ERT) is a therapeutic approach envisioned decades ago for the correction of genetic disorders, but it is only after improvements in recombinant protein expression and purification that the applicability of this approach has increased. Customarily, ERT has been less successful for the correction of disorders with neurological manifestations. In this work we have tested the functionality of nanoparticles (NP) composed of maltodextrin with a lipid core to bind and stabilize tyrosine hydroxylase (TH), which is a complex and unstable brain enzyme that catalyzes the rate limiting step in the synthesis of dopamine and other catecholamine neurotransmitters...
January 4, 2018: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29297597/validation-of-a-novel-scoring-system-for-changes-in-skeletal-manifestations-of-hypophosphatasia-in-newborns-infants-and-children-the-radiographic-global-impression-of-change-scale
#12
Michael P Whyte, Kenji P Fujita, Scott Moseley, David D Thompson, William H McAlister
Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Although HPP during growth often manifests with distinctive radiographic skeletal features, no validated method was available to quantify them, including changes over time. We created the Radiographic Global Impression of Change (RGI-C) scale to assess changes in the skeletal burden of pediatric HPP. Site-specific pairs of radiographs of newborns, infants, and children with HPP from 3 clinical studies of asfotase alfa, an enzyme replacement therapy for HPP, were obtained at Baseline and during treatment...
January 3, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29296186/genetic-variants-associated-with-fabry-disease-progression-despite-enzyme-replacement-therapy
#13
Francesca Scionti, Maria Teresa Di Martino, Simona Sestito, Angela Nicoletti, Francesca Falvo, Katia Roppa, Mariamena Arbitrio, Pietro Hiram Guzzi, Giuseppe Agapito, Antonio Pisani, Eleonora Riccio, Daniela Concolino, Licia Pensabene
Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A. It is still unclear why some patients under ERT show disease progression typically with renal, cardiovascular and cerebrovascular dysfunctions. Here, we investigated the involvement of drug absorption, distribution, metabolism, and excretion gene variants in response variability to ERT, genotyping 37 patients with the Affymetrix Drug Metabolizing Enzyme and Transporters (DMET) Plus microarray...
December 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/29295764/gene-therapy-for-mucopolysaccharidoses
#14
REVIEW
Kazuki Sawamoto, Hui-Hsuan Chen, Carlos J Alméciga-Díaz, Robert W Mason, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders (LSDs) caused by a deficiency of lysosomal enzymes, leading to a wide range of various clinical symptoms depending upon the type of MPS or its severity. Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), and various surgical procedures are currently available for patients with MPS. However, there is no curative treatment for this group of disorders. Gene therapy should be a one-time permanent therapy, repairing the cause of enzyme deficiency...
December 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29295737/immunomodulatory-liver-depot-gene-therapy-for-pompe-disease
#15
J E Bond, P S Kishnani, D D Koeberl
Pompe disease is caused by mutations in acid alpha glucosidase (GAA) that causes accumulation of lysosomal glycogen affecting the heart and skeletal muscles, and can be fatal. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) improves muscle function by reducing glycogen accumulation. Limitations of ERT include a short half-life and the formation of antibodies that result in reduced efficacy. By harnessing the immune tolerance induction properties of the liver, liver-targeted gene delivery (with an adeno-associated virus vector containing a liver specific promoter), suppresses immunity against the GAA introduced by gene therapy...
December 29, 2017: Cellular Immunology
https://www.readbyqxmd.com/read/29295587/dopamine-and-levodopa-prodrugs-for-the-treatment-of-parkinson-s-disease
#16
REVIEW
Fatma Haddad, Maryam Sawalha, Yahya Khawaja, Anas Najjar, Rafik Karaman
Background: Parkinson's disease is an aggressive and progressive neurodegenerative disorder that depletes dopamine (DA) in the central nervous system. Dopamine replacement therapy, mainly through actual dopamine and its original prodrug l-dopa (LD), faces many challenges such as poor blood brain barrier penetration and decreased response to therapy with time. Methods: The prodrugs described herein are ester, amide, dimeric amide, carrier-mediated, peptide transport-mediated, cyclic, chemical delivery systems and enzyme-models prodrugs designed and made by chemical means, and their bioavailability was studied in animals...
December 25, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29289479/enzyme-replacement-therapy-with-alglucosidase-alfa-in-pompe-disease-clinical-experience-with-rate-escalation
#17
Ankit K Desai, Crista K Walters, Heidi L Cope, Zoheb B Kazi, Stephanie M DeArmey, Priya S Kishnani
Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with alglucosidase alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration is 3h 45min for a patient receiving the standard dose of 20mg/kg, not including additional time needed for preparation of ERT, assessment of vital signs, intravenous access, and post-infusion monitoring. Recent studies have demonstrated increased effectiveness of higher dose of ERT (40mg/kg) in infantile-onset Pompe disease (IOPD), which increases the infusion duration to 6h 36min...
December 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29288396/plasma-lyso-gb3-a-biomarker-for-monitoring-fabry-patients-during-enzyme-replacement-therapy
#18
Hitoshi Sakuraba, Tadayasu Togawa, Takahiro Tsukimura, Hiroshi Kato
BACKGROUND: Recently, globotriaosylsphingosine (lyso-Gb3) has attracted interest as a biomarker of Fabry disease. However, little is known regarding its utility for the evaluation of the therapeutic efficacy. METHOD: We measured plasma lyso-Gb3 concentration in Japanese healthy subjects and Fabry patients by means of liquid chromatography-tandem mass spectrometry (LC-MS/MS). We determined the reference interval in Japanese (UMIN000016854), and examined the effect of enzyme replacement therapy (ERT) with recombinant α-galactosidase A (GLA) and the influence of antibodies against the enzyme on the plasma lyso-Gb3 level in Fabry patients (UMIN000017152)...
December 29, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29285931/enzymes-as-immunotherapeutics
#19
Shaheen A Farhadi, Evelyn R Bracho-Sanchez, Sabrina L Freeman, Benjamin Keselowsky, Gregory A Hudalla
Enzymes are attractive as immunotherapeutics because they can catalyze shifts in the local availability of immunostimulatory and immunosuppressive signals. Clinical success of enzyme immunotherapeutics frequently hinges upon achieving sustained biocatalysis over relevant timescales. The timescale and location of biocatalysis are often dictated by the location of the substrate. For example, therapeutic enzymes that convert substrates distributed systemically are typically designed to have a long half-life in circulation, whereas enzymes that convert substrates localized to a specific tissue or cell population can be more effective when designed to accumulate at the target site...
December 29, 2017: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29285158/clinical-observation-of-ulinastatin-combined-with-crrt-in-the-treatment-of-early-cardiopulmonary-resuscitation
#20
Qinghong Liu, Jinliang Peng, Yuming Zhou, Weilan Zeng, Shihui Xiao, Hui Cheng, Zhenzhou Zhong, Xiangming Liao, Xiaoliu Xiao, Liang Luo, Xianghong Liu
The clinical efficacy of ulinastatin (UTI) combined with continuous renal replacement therapy (CRRT) in the treatment after early cardiopulmonary resuscitation (CPR) was evaluated. A total of 70 patients who were successfully treated with CPR in Ganzhou People's Hospital from October 2016 to March 2017 were selected as the subjects. The patients were randomly divided into control group (35 cases, conventional treatment) and UTI combined with CRRT group (35 cases, UTI + CRRT). The whole blood of patients was collected at 0, 3, 6 and 12 h after CPR...
December 2017: Experimental and Therapeutic Medicine
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