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https://www.readbyqxmd.com/read/28728811/newborn-screening-for-lysosomal-storage-disorders-in-illinois-the-initial-15-month-experience
#1
Barbara K Burton, Joel Charrow, George E Hoganson, Darrell Waggoner, Brad Tinkle, Stephen R Braddock, Michael Schneider, Dorothy K Grange, Claudia Nash, Heather Shryock, Rebecca Barnett, Rong Shao, Khaja Basheeruddin, George Dizikes
OBJECTIVES: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois. STUDY DESIGN: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago. RESULTS: The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p...
July 17, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28721335/investigation-of-newborns-with-abnormal-results-in-a-newborn-screening-program-for-four-lysosomal-storage-diseases-in-brazil
#2
Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F M Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS) for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not) of the cases that had an abnormal result in the initial screening...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28716627/membrane-proteins-structures-a-review-on-computational-modeling-tools
#3
REVIEW
Jose G Almeida, Antonio J Preto, Panagiotis I Koukos, Alexandre M J J Bonvin, Irina S Moreira
BACKGROUND: Membrane proteins (MPs) play diverse and important functions in living organisms. They constitute 20% to 30% of the known bacterial, archaean and eukaryotic organisms' genomes. In humans, their importance is emphasized as they represent 50% of all known drug targets. Nevertheless, experimental determination of their three-dimensional (3D) structure has proven to be both time consuming and rather expensive, which has led to the development of computational algorithms to complement the available experimental methods and provide valuable insights...
July 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28710445/microplastics-in-eviscerated-flesh-and-excised-organs-of-dried-fish
#4
Ali Karami, Abolfazl Golieskardi, Yu Bin Ho, Vincent Larat, Babak Salamatinia
There is a paucity of information about the occurrence of microplastics (MPs) in edible fish tissues. Here, we investigated the potential presence of MPs in the excised organs (viscera and gills) and eviscerated flesh (whole fish excluding the viscera and gills) of four commonly consumed dried fish species (n = 30 per species). The MP chemical composition was then determined using micro-Raman spectroscopy and elemental analysis with energy-dispersive X-ray spectroscopy (EDX). Out of 61 isolated particles, 59...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28697439/targeting-dendritic-cells-for-the-treatment-of-autoimmune-disorders
#5
REVIEW
C Sousa, I Pereira, A C Santos, C Carbone, A B Kovačević, A M Silva, E B Souto
In the last decades, it has been recognized that extracellular vesicles (EVs) are not only cell debris with no biological role, but instead they play a key role in information exchange between cells either in health and disease conditions. EVs exhibit indeed their biological role in a pleiotropic manner. They can modulate immune responses through the activation, transfer or removal of surface receptors on target cells, the removal of cytolytic components such as membrane attack complexes, and the transfer of signaling molecules/effectors, such as nucleic acid species, infectious particles, and oncogenes...
June 30, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28695759/diffusion-tensor-imaging-findings-suggestive-of-white-matter-alterations-in-a-canine-model-of-mucopolysaccharidosis-type-i
#6
Dana M Middleton, Jonathan Y Li, Steven D Chen, Leonard E White, Patricia Dickson, N Matthew Ellinwood, James M Provenzale
Purpose We investigated fractional anisotropy (FA) and radial diffusivity (RD) in a canine model of mucopolysaccharidosis (MPS). We hypothesized that canines affected with MPS would exhibit decreased FA and increased RD values when compared to unaffected canines, a trend that has been previously described in humans with white matter diseases. Methods Four unaffected canines and two canines with MPS were euthanized at 18 weeks of age. Their brains were imaged using high-resolution diffusion tensor imaging (DTI) on a 7T small-animal magnetic resonance imaging system...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28694827/preferred-m2-polarization-by-asc-based-hydrogel-accelerated-angiogenesis-and-myogenesis-in-volumetric-muscle-loss-rats
#7
Hong Huang, Jiejie Liu, Haojie Hao, Deyun Chen, Ling Zhizhong, Meirong Li, Haijing Song, Rong Xiang, Chaoguang Jiang, Xiaobing Fu, Weidong Han
Volumetric muscle loss (VML) injury resulted from massive muscle defects and diseases for which there are still no effective therapeutic treatments. This study aimed to investigate the effects of rat adipose-derived mesenchymal stem cells (rASCs) and rASCs-conditioned medium- (CM-) based type I collagen hydrogel on macrophage (MP) transition, myogenesis, and vascularization in the rat VML model. Laser Doppler results demonstrated much higher blood flow in the rASC- and CM-based hydrogel groups. qRT-PCR, hematoxylin and eosin, immunofluorescence, and Sirius Red staining manifested that both rASCs and CM-based hydrogel implantation accelerated muscle repair with upregulated angiogenesis and myogenesis, attenuated inflammation while facilitating M2 transition, and decreased the collagen deposition compared with the hydrogel group...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28688844/performance-of-granular-activated-carbon-to-remove-micropollutants-from-municipal-wastewater-a-meta-analysis-of-pilot-and-large-scale-studies
#8
REVIEW
Frank Benstoem, Andreas Nahrstedt, Marc Boehler, Gregor Knopp, David Montag, Hansruedi Siegrist, Johannes Pinnekamp
For reducing organic micropollutants (MP) in municipal wastewater effluents, granular activated carbon (GAC) has been tested in various studies. We did systematic literature research and found 44 studies dealing with the adsorption of MPs (carbamazepine, diclofenac, sulfamethoxazole) from municipal wastewater on GAC in pilot- and large-scale plants. Within our meta-analysis we plot the bed volumes (BV [m(3)water/m(3)GAC]) until the breakthrough criterion of MP-BV20% was reached, dependent on potential relevant parameters (empty bed contact time EBCT, influent DOC DOC0 and manufacturing method)...
June 29, 2017: Chemosphere
https://www.readbyqxmd.com/read/28684085/incomplete-biomarker-response-in-mucopolysaccharidosis-type-i-after-successful-hematopoietic-cell-transplantation
#9
Gé-Ann Kuiper, Peter M van Hasselt, Jaap Jan Boelens, Frits A Wijburg, Eveline J Langereis
BACKGROUND: Residual disease, primarily involving musculoskeletal tissue, is a common problem in patients with neuronopathic mucopolysaccharidosis type I (MPS I, Hurler or severe Hurler-Scheie phenotype) after a successful hematopoietic cell transplantation (HCT). The concentration of the GAG derived biomarkers heparan sulfate (HS) and dermatan sulfate (DS), may reflect residual disease and is used for monitoring biochemical response to therapies. This study investigates the response of HS and DS in blood and urine to HCT in MPS I patients...
May 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28676128/phenotype-prediction-for-mucopolysaccharidosis-type-i-by-in-silico-analysis
#10
Li Ou, Michael J Przybilla, Chester B Whitley
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate. To achieve optimal clinical outcomes, early and proper treatment is essential, which requires early diagnosis and phenotype severity prediction. RESULTS: To establish a genotype/phenotype correlation of MPS I disease, a combination of bioinformatics tools including SIFT, PolyPhen, I-Mutant, PROVEAN, PANTHER, SNPs&GO and PHD-SNP are utilized...
July 4, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28668022/time-dependent-n-electron-valence-perturbation-theory-with-matrix-product-state-reference-wavefunctions-for-large-active-spaces-and-basis-sets-applications-to-the-chromium-dimer-and-all-trans-polyenes
#11
Alexander Yu Sokolov, Sheng Guo, Enrico Ronca, Garnet Kin-Lic Chan
In earlier work [A. Y. Sokolov and G. K.-L. Chan, J. Chem. Phys. 144, 064102 (2016)], we introduced a time-dependent formulation of the second-order N-electron valence perturbation theory (t-NEVPT2) which (i) had a lower computational scaling than the usual internally contracted perturbation formulation and (ii) yielded the fully uncontracted NEVPT2 energy. Here, we present a combination of t-NEVPT2 with a matrix product state (MPS) reference wavefunction (t-MPS-NEVPT2) that allows us to compute uncontracted dynamic correlation energies for large active spaces and basis sets, using the time-dependent density matrix renormalization group algorithm...
June 28, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28667788/altered-%C3%AE-2-glycoprotein-i-expression-on-microparticles-in-the-presence-of-antiphospholipid-antibodies
#12
Fariborz Mobarrez, Iva Gunnarsson, Elisabet Svenungsson
BACKGROUND: Antiphospholipid antibodies (aPL) together with thrombosis and/or pregnancy morbidities characterize the antiphospholipid syndrome. β2-glycoprotein-I (β2 GPI), the most important antigen for aPL, is a scavenger molecule that specifically binds to phosphatidylserine (PS), expressed on microparticles (MPs). OBJECTIVES: We evaluated β2 GPI-expressing MPs in patients with systemic lupus erythematosus (SLE) stratified for aPL status, and healthy controls...
July 1, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28660346/adeno-associated-viral-gene-therapy-for-mucopolysaccharidoses-exhibiting-neurodegeneration
#13
REVIEW
Adeline A Lau, Kim M Hemsley
The mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders that are caused by mutations in the genes involved in glycosaminoglycan breakdown. Multiple organs and tissues are affected, including the central nervous system. At present, hematopoietic stem cell transplantation and enzyme replacement therapies are approved for some of the (non-neurological) MPS. Treatments that effectively ameliorate the neurological aspects of the disease are being assessed in clinical trials. This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome)...
June 29, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28652916/tunable-delayed-controlled-release-profile-from-layered-polymeric-microparticles
#14
D Dutta, C Fauer, K Hickey, M Salifu, S E Stabenfeldt
Composite microparticles (MPs) with layered architecture, engineered from poly(L-lactic acid) (PLLA) and poly(D,L-lactic-co-glycolic acid) (PLGA), are promising devices for achieving the delayed release of proteins. Here, we build on a water-in-oil-in-oil-in-water emulsion method of fabricating layered MPs with an emphasis on modulating the delay period of the protein release profile. Particle hardening parameters (i.e. polymer precipitation rate and total hardening time) following water-in-oil-in-oil-in-water emulsions are known to affect MP structure such as the core/shell material and cargo localization...
June 21, 2017: Journal of Materials Chemistry. B, Materials for Biology and Medicine
https://www.readbyqxmd.com/read/28649516/novel-frameshift-variant-in-the-idua-gene-underlies-mucopolysaccharidoses-type-i-in-a-consanguineous-yemeni-pedigree
#15
Belal Azab, Zain Dardas, Mohannad Hamarsheh, Mohammad Alsalem, Zaid Kilani, Farah Kilani, Abdalla Awidi, Hanan Jafar, Sami Amr
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a consequence of a deficiency in the lysosomal hydrolase, a-L-iduronidase enzyme encoded by IDUA gene. Over a hundred causative variants in IDUA have been identified, which result in a progressive multi-systemic disease with a broad range of severity and disease progression reported across affected individuals. The aim of this study was the detection and interpretation of IDUA mutation in a family with two children affected with lethal MPS I...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649514/early-hematopoietic-stem-cell-transplantation-in-a-patient-with-severe-mucopolysaccharidosis-ii-a-7%C3%A2-years-follow-up
#16
Anneliese L Barth, Tatiana S P C de Magalhães, Ana Beatriz R Reis, Maria Lucia de Oliveira, Fernanda B Scalco, Nicolette C Cavalcanti, Daniel S E Silva, Danielle A Torres, Alessandra A P Costa, Carmem Bonfim, Roberto Giugliani, Juan C Llerena, Dafne D G Horovitz
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649187/distinct-proteome-pathology-of-circulating-microparticles-in-systemic-lupus-erythematosus
#17
Ole Østergaard, Christoffer Tandrup Nielsen, Julia T Tanassi, Line V Iversen, Søren Jacobsen, Niels H H Heegaard
BACKGROUND: The pathogenesis of systemic lupus erythematosus (SLE) is poorly understood but has been linked to defective clearance of subcellular particulate material from the circulation. This study investigates the origin, formation, and specificity of circulating microparticles (MPs) in patients with SLE based on comprehensive MP proteome profiling using patients with systemic sclerosis (SSc) and healthy donors (HC) as controls. METHODS: We purified MPs from platelet-poor plasma using differential centrifugation of samples from SLE (n = 45), SSc (n = 38), and two sets of HC (n = 35, n = 25)...
2017: Clinical Proteomics
https://www.readbyqxmd.com/read/28642676/international-society-of-sports-nutrition-position-stand-protein-and-exercise
#18
REVIEW
Ralf Jäger, Chad M Kerksick, Bill I Campbell, Paul J Cribb, Shawn D Wells, Tim M Skwiat, Martin Purpura, Tim N Ziegenfuss, Arny A Ferrando, Shawn M Arent, Abbie E Smith-Ryan, Jeffrey R Stout, Paul J Arciero, Michael J Ormsbee, Lem W Taylor, Colin D Wilborn, Doug S Kalman, Richard B Kreider, Darryn S Willoughby, Jay R Hoffman, Jamie L Krzykowski, Jose Antonio
The International Society of Sports Nutrition (ISSN) provides an objective and critical review related to the intake of protein for healthy, exercising individuals. Based on the current available literature, the position of the Society is as follows:An acute exercise stimulus, particularly resistance exercise, and protein ingestion both stimulate muscle protein synthesis (MPS) and are synergistic when protein consumption occurs before or after resistance exercise.For building muscle mass and for maintaining muscle mass through a positive muscle protein balance, an overall daily protein intake in the range of 1...
2017: Journal of the International Society of Sports Nutrition
https://www.readbyqxmd.com/read/28638350/branched-chain-amino-acid-ingestion-stimulates-muscle-myofibrillar-protein-synthesis-following-resistance-exercise-in-humans
#19
Sarah R Jackman, Oliver C Witard, Andrew Philp, Gareth A Wallis, Keith Baar, Kevin D Tipton
The ingestion of intact protein or essential amino acids (EAA) stimulates mechanistic target of rapamycin complex-1 (mTORC1) signaling and muscle protein synthesis (MPS) following resistance exercise. The purpose of this study was to investigate the response of myofibrillar-MPS to ingestion of branched-chain amino acids (BCAAs) only (i.e., without concurrent ingestion of other EAA, intact protein, or other macronutrients) following resistance exercise in humans. Ten young (20.1 ± 1.3 years), resistance-trained men completed two trials, ingesting either 5...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28619065/open-issues-in-mucopolysaccharidosis-type-i-hurler
#20
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
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