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https://www.readbyqxmd.com/read/28428354/multiplex-tandem-mass-spectrometry-enzymatic-activity-assay-for-newborn-screening-of-the-mucopolysaccharidoses-and-type-2-neuronal-ceroid-lipofuscinosis
#1
Yang Liu, Fan Yi, Arun Babu Kumar, Naveen Kumar Chennamaneni, Xinying Hong, C Ronald Scott, Michael H Gelb, Frantisek Turecek
BACKGROUND: We expanded the use of tandem mass spectrometry combined with liquid chromatography (LC-MS/MS) for multiplex newborn screening of seven lysosomal enzymes in dried blood spots (DBS). The new assays are for enzymes responsible for the mucopolysaccharidoses (MPS-I, -II, -IIIB, -IVA, -VI, and -VII) and type 2 neuronal ceroid lipofuscinosis (LINCL). METHODS: New substrates were prepared and char-acterized for tripeptidyl peptidase 1 (TPP1), α-N-acetylglucosaminidase (NAGLU), and lysosomal β-glucuronidase (GUSB)...
April 20, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28424820/microparticles-during-long-term-follow-up-after-acute-myocardial-infarction-association-to-atherosclerotic-burden-and-risk-of-cardiovascular-events
#2
Christina Christersson, Åsa Thulin, Agneta Siegbahn
Microparticles (MPs) are formed from platelets (PMPs), endothelial cells (EMPs) and monocytes (MMPs), and in acute myocardial infarction (MI), there is an increase of MPs in the culprit artery. In this study MPs were evaluated in whole blood in 105 patients with MI at five time-points during a two-year follow-up (FU). Patients with non-ST-elevated MI had higher concentrations of CD41+MPs compared to ST-elevated MI patients (p=0.024). The concentrations of PMPs in whole blood increased during the time period (p<0...
April 20, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28410878/efficacy-of-laronidase-therapy-in-patients-with-mucopolysaccharidosis-type-i-who-initiated-enzyme-replacement-therapy-in-adult-age-a-systematic-review-and-meta-analysis
#3
Jordi Pérez-López, Montserrat Morales-Conejo, Mónica López-Rodríguez, Álvaro Hermida-Ameijeiras, Marc Moltó-Abad
BACKGROUND: The efficacy of starting enzyme replacement therapy (ERT) in adults with Muchopolysaccharidosis Type I (MPS-I) is controversial. Evaluating the benefits reported by patients initiating ERT with laronidase at adult age might help physicians decide whether the use of ERT in these patients is worthwhile from a clinical point of view. OBJECTIVE: To assess every effectiveness variable modified in MPS-I patients who initiated laronidase at adult age. METHODS: A systematic search of the literature, from inception to July 2016, was conducted using MEDLINE, EMBASE, CENTRAL and LILACS to identify randomized trials or observational studies including ≥1 MPS-I patients with ERT initiated in adult age (≥18years) and evaluating ERT efficacy...
April 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28405179/a-review-of-studies-of-the-proteomes-of-circulating-microparticles-key-roles-for-galectin-3-binding-protein-expressing-microparticles-in-vascular-diseases-and-systemic-lupus-erythematosus
#4
REVIEW
Christoffer T Nielsen, Ole Østergaard, Niclas S Rasmussen, Søren Jacobsen, Niels H H Heegaard
Subcellular microvesicles (MVs) have attracted increasing interest during the past decades. While initially considered as inert cellular debris, several important roles for MVs in physiological homeostasis, cancer, cardiovascular, and autoimmune diseases have been uncovered. Although still poorly understood, MVs are involved in trafficking of information from cell-to-cell, and are implicated in the regulation of immunity, thrombosis, and coagulation. Different subtypes of extracellular MVs exist. This review focuses on the cell membrane-derived shedded MVs (ranging in size from 200 to 1000 nm) typically termed microparticles (MPs)...
2017: Clinical Proteomics
https://www.readbyqxmd.com/read/28400539/mass-cytometry-deep-phenotyping-of-human-mononuclear-phagocytes-and-myeloid-derived-suppressor-cells-from-human-blood-and-bone-marrow
#5
Mikael Roussel, P Brent Ferrell, Allison R Greenplate, Faustine Lhomme, Simon Le Gallou, Kirsten E Diggins, Douglas B Johnson, Jonathan M Irish
The monocyte phagocyte system (MPS) includes numerous monocyte, macrophage, and dendritic cell (DC) populations that are heterogeneous, both phenotypically and functionally. In this study, we sought to characterize those diverse MPS phenotypes with mass cytometry (CyTOF). To identify a deep phenotype of monocytes, macrophages, and DCs, a panel was designed to measure 38 identity, activation, and polarization markers, including CD14, CD16, HLA-DR, CD163, CD206, CD33, CD36, CD32, CD64, CD13, CD11b, CD11c, CD86, and CD274...
April 11, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28383714/a-systems-approach-identifies-time-dependent-associations-of-multimorbidities-with-pancreatic-cancer-risk
#6
P Gomez-Rubio, V Rosato, M Marquez, C Bosetti, E Molina-Montes, M Rava, J Piñero, C W Michalski, A Farré, X Molero, M Löhr, L Ilzarbe, J Perea, W Greenhalf, M O'Rorke, A Tardón, T Gress, V M Barberà, T Crnogorac-Jurcevic, L Muñoz-Bellvís, E Domínguez-Muñoz, A Gutiérrez-Sacristán, J Balsells, E Costello, C Guillén-Ponce, J Huang, M Iglesias, J Kleeff, B Kong, J Mora, L Murray, D O'Driscoll, P Peláez, I Poves, R T Lawlor, A Carrato, M Hidalgo, A Scarpa, L Sharp, L I Furlong, F X Real, C La Vecchia, N Malats
Background: HASH(0x3c3bde0) Pancreatic ductal adenocarcinoma (PDAC) is usually diagnosed in late adulthood; therefore, many patients suffer or have suffered from other diseases. Identifying disease-patterns associated with PDAC risk may enable a better characterization of high-risk patients. Methods: HASH(0x4136338) Multimorbidity patterns (MPs) were assessed from 17 self-reported conditions using hierarchical clustering, principal component, and factor analyses in 1705 PDAC cases and 1084 controls from a European population...
April 5, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28352175/factors-influencing-transfection-efficiency-of-pidua-nanoemulsion-complexes-in-a-mucopolysaccharidosis-type-i-murine-model
#7
Michelle Fraga, Talita Giacomet de Carvalho, Juliana Bidone, Roselena Silvestri Schuh, Ursula Matte, Helder Ferreira Teixeira
Mucopolysaccharidosis type I (MPS I) is an autosomal disease caused by alpha-l-iduronidase (IDUA) deficiency. This study used IDUA knockout mice as a model to evaluate whether parameters such as dose of plasmid and time of treatment could influence the transfection efficiency of complexes formed with PEGylated cationic nanoemulsions and plasmid (pIDUA), which contains the gene that encodes for IDUA. Formulations were composed of medium chain triglycerides, 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine, 1,2-distearoyl-sn-glycero-3-phosphoethanolamine-N-(amino[polyethylene glycol]-2000), 1,2-dioleoyl-sn-glycero-3-trimethylammonium propane (DOTAP), glycerol, and water and were prepared by the adsorption or encapsulation of preformed pIDUA-DOTAP complexes by high-pressure homogenization...
2017: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/28342798/allele-frequencies-and-other-forensic-parameters-of-the-hid-ion-ampliseq%C3%A2-identity-panel-markers-in-basques-using-the-ion-torrent-pgm%C3%A2-platform
#8
O García, A Soto, I Yurrebaso
The HID-Ion AmpliSeq™ Identity Panel amplifies 90 autosomal SNPs and 34 Y- SNPs with massively parallel sequencing (MPS) using the Ion Torrent PGM™ platform. In the present study, 105 Basques were analyzed to assess this panel. All loci were in Hardy-Weinberg equilibrium and no association between them was detected. Forensic parameters were calculated as 5.74×10(-36) for combined match probability and 99.99998% for combined power of exclusion. In conclusion, the HID Identity panel and the use of this new MPS technology are very promising tools for paternity testing and human identification in routine casework in the forensic field...
March 8, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#9
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28294991/the-carotid-intima-media-thickness-and-arterial-stiffness-of-pediatric-mucopolysaccharidosis-patients-are-increased-compared-to-both-pediatric-and-adult-controls
#10
Raymond Y Wang, Kyle D Rudser, Donald R Dengel, Elizabeth A Braunlin, Julia Steinberger, David R Jacobs, Alan R Sinaiko, Aaron S Kelly
Treatments for mucopolysaccharidoses (MPSs) have increased longevity, but cardiovascular disease causes mortality in a significant percentage of survivors. Markers must be developed to predict MPS cardiac risk and monitor efficacy of investigational therapies.MPS patients underwent carotid artery ultrasonography from which carotid intima-media thickness (cIMT) and three measures of arterial stiffness were calculated: carotid artery distensibility (cCSD), compliance (cCSC), and incremental elastic modulus (cIEM)...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28292727/analysis-of-dna-from-post-blast-pipe-bomb-fragments-for-identification-and-determination-of-ancestry
#11
Esiri Tasker, Bobby LaRue, Charity Beherec, David Gangitano, Sheree Hughes-Stamm
Improvised explosive devices (IEDs) such as pipe bombs are weapons used to detrimentally affect people and communities. A readily accessible brand of exploding targets called Tannerite® has been identified as a potential material for abuse as an explosive in pipe bombs. The ability to recover and genotype DNA from such weapons may be vital in the effort to identify suspects associated with these devices. While it is possible to recover DNA from post-blast fragments using short tandem repeat markers (STRs), genotyping success can be negatively affected by low quantities of DNA, degradation, and/or PCR inhibitors...
March 1, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28284246/ictv-virus-taxonomy-profile-ourmiavirus
#12
Massimo Turina, Brad I Hillman, Keramat Izadpanah, Mina Rastgou, Cristina Rosa, Ictv Report Consortium
Members of the plant virus genus Ourmiavirus are characterized by having non-enveloped bacilliform virions with a series of discrete lengths from 30 to 62 nm composed of a single coat protein (CP). The genome consists of three positive-sense single-stranded RNAs, each encoding a single protein. The RNA-dependent RNA polymerase (RdRp) has closest similarity to that of viruses from the family Narnaviridae; the movement protein (MP) is similar to the MPs of tombusviruses; the CP shows limited similarity to the CPs of several plant and animal viruses...
February 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28267162/multi-functional-scaling-methodology-for-translational-pharmacokinetic-and-pharmacodynamic-applications-using-integrated-microphysiological-systems-mps
#13
Christian Maass, Cynthia L Stokes, Linda G Griffith, Murat Cirit
Microphysiological systems (MPS) provide relevant physiological environments in vitro for studies of pharmacokinetics, pharmacodynamics and biological mechanisms for translational research. Designing multi-MPS platforms is essential to study multi-organ systems. Typical design approaches, including direct and allometric scaling, scale each MPS individually and are based on relative sizes not function. This study's aim was to develop a new multi-functional scaling approach for integrated multi-MPS platform design for specific applications...
April 18, 2017: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/28264742/differential-surface-glycoprofile-of-buffalo-bull-spermatozoa-during-mating-and-non-mating-periods
#14
G Accogli, G M Lacalandra, G Aiudi, S N Cox, S Desantis
The buffalo has a seasonal reproduction activity with mating and non-mating periods occurring from late autumn to winter and from late spring to beginning of autumn, respectively. Sperm glycocalyx plays an important role in reproduction as it is the first interface between sperm and environment. Semen quality is poorer during non-mating periods, so we aimed to evaluate if there were also seasonal differences in the surface glycosylation pattern of mating period spermatozoa (MPS) compared with non-mating period spermatozoa (NMPS)...
March 7, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28223066/audiological-findings-in-children-with-mucopolysaccharidoses-type-i-iv
#15
María F Vargas-Gamarra, Carlos de Paula-Vernetta, Isidro Vitoria Miñana, Isabel Ibañez-Alcañiz, Laura Cavallé-Garrido, Agustín Alamar-Velazquez
OBJECTIVE: The aim of our study is to reflect hearing impairment of 23children diagnosed with mucopolysaccharidosis (MPS) typeI, II, III and IV. METHODS: Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23children diagnosed with MPS typeI, II, III or IV followed at a Tertiary Referral Hospital between 1997 and 2015. RESULTS: Six cases of MPSI, 8 of MPSII, 4 of MPSIII and 5 of MPSIV were reviewed...
February 18, 2017: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/28220405/altered-cellular-homeostasis-in-murine-mps-i-fibroblasts-evidence-of-cell-specific-physiopathology
#16
Gustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, Vânia D'Almeida
Mucopolysaccharidosis type I (MPS I), a rare autosomal recessive disease, is caused by a deficiency of the lysosomal enzyme alfa-L-iduronidase. Impaired enzyme activity promotes glycosaminoglycans accumulation in several tissues and organs, leading to complex multisystemic complications. Several studies using animal models indicated different intracellular pathways involving MPS I physiopathology; however, the exact mechanisms underlying this syndrome are still not understood. Previous results from our group showed alterations in ionic homeostasis and cell viability of splenocytes and macrophages in Idua-/- mice...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28213360/circulating-endothelial-microparticles-and-mir-92a-in-acute-myocardial-infarction
#17
Yuchen Zhang, Junjun Cheng, Fang Chen, Changyan Wu, Junmeng Zhang, Xuejun Ren, Yu Pan, Bin Nie, Quan Li, Yu Li
Microparticles (MPs) and miRNAs have been shown to play important roles in coronary artery disease (CAD) by monitoring endothelial dysfunction. The present study aims to investigate the diagnostic value of endothelial MPs (EMPs) and miRNAs (miR-92a or miR-23a) as biomarkers in distinguishing patients with acute myocardial infarction (AMI) from those with CAD. Plasma samples from 37 patients with AMI, 42 patients with stable CAD (SCAD), and 35 healthy adults were collected for investigation in the present study...
April 28, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28211988/intrathecal-enzyme-replacement-therapy-reverses-cognitive-decline-in-mucopolysaccharidosis-type-i
#18
Igor Nestrasil, Elsa Shapiro, Alena Svatkova, Patricia Dickson, Agnes Chen, Amy Wakumoto, Alia Ahmed, Edward Stehel, Sarah McNeil, Curtis Gravance, Elizabeth Maher
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207887/platelet-monocyte-derived-and-tissue-factor-carrying-circulating-microparticles-are-related-to-acute-myocardial-infarction-severity
#19
Gemma Chiva-Blanch, Kristian Laake, Peder Myhre, Vibeke Bratseth, Harald Arnesen, Svein Solheim, Lina Badimon, Ingebjørg Seljeflot
OBJECTIVE: Circulating microparticles (cMPs) are phospholipid-rich vesicles released from cells when activated or injured, and contribute to the formation of intracoronary thrombi. Tissue factor (TF, CD142) is the main trigger of fibrin formation and TF-carrying cMPs are considered one of the most procoagulant cMPs. Similar types of atherosclerotic lesions may lead to different types of AMI, although the mechanisms behind are unresolved. Therefore, we aimed to investigate the phenotype of cMPs found in plasma of ACS patients and its relation to AMI severity and thrombotic burden...
2017: PloS One
https://www.readbyqxmd.com/read/28193245/early-disease-progression-of-hurler-syndrome
#20
Bridget T Kiely, Jennifer L Kohler, Hannah Y Coletti, Michele D Poe, Maria L Escolar
BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler-Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening...
February 14, 2017: Orphanet Journal of Rare Diseases
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