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https://www.readbyqxmd.com/read/29324825/early-and-later-phases-satellite-cell-responses-and-myonuclear-content-with-resistance-training-in-young-men
#1
Felipe Damas, Cleiton A Libardi, Carlos Ugrinowitsch, Felipe C Vechin, Manoel E Lixandrão, Tim Snijders, Joshua P Nederveen, Aline V Bacurau, Patricia Brum, Valmor Tricoli, Hamilton Roschel, Gianni Parise, Stuart M Phillips
Satellite cells (SC) are associated with skeletal muscle remodelling after muscle damage and/or extensive hypertrophy resulting from resistance training (RT). We recently reported that early increases in muscle protein synthesis (MPS) during RT appear to be directed toward muscle damage repair, but MPS contributes to hypertrophy with progressive muscle damage attenuation. However, modulations in acute-chronic SC content with RT during the initial (1st-wk: high damage), early (3rd-wk: attenuated damage), and later (10th-wk: no damage) stages is not well characterized...
2018: PloS One
https://www.readbyqxmd.com/read/29313030/poly-2-propylacrylic-acid-poly-lactic-co-glycolic-acid-blend-microparticles-as-a-targeted-antigen-delivery-system-to-direct-either-cd4-or-cd8-t-cell-activation
#2
Lirong Yang, Evelyn Bracho-Sanchez, Lawrence P Fernando, Jamal S Lewis, Matthew R Carstens, Craig L Duvall, Benjamin G Keselowsky
Poly(lactic-co-glycolic acid) (PLGA) based microparticles (MPs) are widely investigated for their ability to load a range of molecules with high efficiency, including antigenic proteins, and release them in a controlled manner. Micron-sized PLGA MPs are readily phagocytosed by antigen presenting cells, and localized to endosomes. Due to low pH and digestive enzymes, encapsulated protein cargo is largely degraded and processed in endosomes for MHC-II loading and presentation to CD4+ T cells, with very little antigen delivered into the cytosol, limiting MHC-I antigenic loading and presentation to CD8+ T cells...
June 2017: Bioengineering & Translational Medicine
https://www.readbyqxmd.com/read/29310675/failure-to-shorten-the-diagnostic-delay-in-two-ultra-orphan-diseases-mucopolysaccharidosis-types-i-and-iii-potential-causes-and-implications
#3
Gé-Ann Kuiper, Olga L M Meijer, Eveline J Langereis, Frits A Wijburg
BACKGROUND: Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a disease-modifying treatment is available. The purpose of this study was to assess the extent of the diagnostic delay in the two ultra-rare diseases, i.e., mucopolysaccharidosis I (MPS I) and III (MPS III), both of which are lysosomal storage disorders with different phenotypic severities (MPS 1 is characterized by the severe Hurler and the more attenuated non-Hurler phenotypes, MPS III is characterized by the severe rapidly progressing (RP) phenotype and more attenuated slowly progressing (SP) phenotype)...
January 8, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29288934/microplastics-have-a-more-profound-impact-than-elevated-temperatures-on-the-predatory-performance-digestion-and-energy-metabolism-of-an-amazonian-cichlid
#4
Bin Wen, Nan Zhang, Shi-Rong Jin, Zai-Zhong Chen, Jian-Zhong Gao, Ying Liu, Han-Peng Liu, Zhe Xu
Knowledge on the impacts of microplastics (MPs) pollution on freshwater environments and biota remains limited. Meanwhile, freshwater ecosystems have been threatened by elevated temperatures caused by climate change. To date, no information exists on how MPs-especially under elevated temperature conditions-affect predatory performance, digestive processes and metabolic pathways in freshwater organisms. Here, we examined MPs, elevated temperature and their combined effects on juveniles (0+ group) of an Amazonian cichlid, the discus fish (Symphysodon aequifasciatus)...
December 26, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/29282708/p-x654r-idua-variant-among-thai-individuals-with-intermediate-mucopolysaccharidosis-type-i-and-its-residual-activity-as-demonstrated-in-cos-7-cells
#5
Lukana Ngiwsara, James R Ketudat-Cairns, Phannee Sawangareetrakul, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Jisnuson Svasti
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a rare autosomal-recessive disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal enzyme encoded by the IDUA gene. Herein, we characterized IDUA mutations underlying mucopolysaccharidosis type I intermediate form (Hurler-Scheie syndrome) and its molecular pathogenic mechanisms. METHODS: Clinical data, activity of the IDUA enzyme in leukocytes, and a mutation of the IDUA gene were analyzed. Pathogenesis associated with an IDUA mutation was further investigated by evaluating the mutant cDNA sequence, protein expression and activity in COS-7 cells...
December 28, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29282638/efficacy-and-safety-of-lumen-apposing-metal-stents-in-management-of-pancreatic-fluid-collections-are-they-better-than-plastic-stents-a-systematic-review-and-meta-analysis
#6
REVIEW
Tariq Hammad, Muhammad Ali Khan, Yaseen Alastal, Wade Lee, Ali Nawras, Mohammad Kashif Ismail, Michel Kahaleh
BACKGROUND AND AIMS: Endoscopic ultrasound (EUS)-guided transmural drainage has been increasingly utilized as a first-line therapeutic modality for drainage of pancreatic fluid collections (PFC). Recently, lumen-apposing metal stents (LAMS) have been utilized for management of PFCs. We conducted a systematic review and meta-analysis to evaluate the cumulative efficacy and safety of LAMS in the management of PFC (primary outcome). We also compared the efficacy and safety of LAMS with multiple plastic stents (MPS) in the management of PFC (secondary outcome)...
December 27, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29273385/glycosaminoglycan-fragments-as-a-measure-of-disease-burden-in-the-mucopolysaccharidosis-type-i-mouse
#7
Jennifer T Saville, Belinda K McDermott, Maria Fuller
Glycosaminoglycan (GAG) catabolism involves endo-hydrolysis of polysaccharides followed by the sequential removal of the non-reducing end residue from the resulting oligosaccharides by exo-enzymes. In the inherited metabolic disorder, mucopolysaccharidosis type I (MPS I), a deficiency in the exo-enzyme, α-l-iduronidase, prevents removal of α-l-iduronic acid residues from the non-reducing end of the GAGs, heparan sulphate (HS) and dermatan sulphate (DS). The excretion of partially degraded HS and DS in urine of MPS I patients has long been recognized, but the question of whether they do indeed reflect GAG load in a particular tissue has not been addressed - an important issue in the context of biomarkers for assessment of disease burden in MPS I...
December 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29247072/vascular-and-dopaminergic-contributors-to-mild-parkinsonian-signs-in-older-adults
#8
Andrea L Rosso, Nicolaas I Bohnen, Lenore J Launer, Howard J Aizenstein, Kristine Yaffe, Caterina Rosano
OBJECTIVE: Mild parkinsonian signs (MPS) are an underappreciated neurologic condition in older adults; we assessed associations of MPS with measures of dopaminergic (catechol-O-methyltransferase [COMT] genotype, an indicator of synaptic dopamine levels) and vascular (white matter hyperintensities [WMH], an indicator of cerebral small vessel disease) factors. METHODS: In a cohort of older adults (mean age 82.6 years [SD 2.6]; 58.0% female; 38.8% black), we assessed cross-sectional associations of WMH volume and COMT Val158Met (rs4680) genotype (n = 35 Met/Met, n = 180 Val carriers) with MPS by regression models adjusted for demographic and health characteristics...
December 15, 2017: Neurology
https://www.readbyqxmd.com/read/29235998/enhanced-degradation-of-micropollutants-by-zero-valent-aluminum-activated-persulfate-assessment-of-toxicity-and-genotoxic-activity
#9
T Olmez-Hanci, I Arslan-Alaton, M Doğan, S Khoei, H Fakhri, G Korkmaz
Advanced oxidation of the aqueous Triton™ X-45 (TX-45), iopamidol (IOPA), ciprofloxacin (CIP) and bisphenol A (BPA) solutions via activation of persulfate (PS) with zero-valent aluminum (ZVA) was investigated. The study aimed at assessing the effectiveness of the PS/ZVA process in terms of target micropollutants (MPs) and toxicity abatements in raw surface water (RSW) and distilled water (DW). TX-45, CIP and BPA were completely degraded after 90-minute, 120-minute and 40-minute treatment, respectively, with PS/ZVA in DW, whereas 95% IOPA removal was achieved after 120-minute (MPs = 2 mg/L; ZVA = 1 g/L; PS = 0...
December 2017: Water Science and Technology: a Journal of the International Association on Water Pollution Research
https://www.readbyqxmd.com/read/29210515/intrafamilial-variability-in-the-clinical-manifestations-of-mucopolysaccharidosis-type-ii-data-from-the-hunter-outcome-survey-hos
#10
Can Ficicioglu, Roberto Giugliani, Paul Harmatz, Nancy J Mendelsohn, Virginie Jego, Rossella Parini
Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data from patients enrolled in the Hunter Outcome Survey (HOS) were used to investigate intrafamilial variability in male siblings with MPS II. As of July 2015, data were available for 78 patients aged ≥5 years at last visit who had at least one affected sibling (39 sibling pairs). These patients were followed prospectively (i.e., they were alive at enrollment in HOS)...
December 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29198892/rtb-lectin-mediated-delivery-of-lysosomal-%C3%AE-l-iduronidase-mitigates-disease-manifestations-systemically-including-the-central-nervous-system
#11
Li Ou, Michael J Przybilla, Brenda Koniar, Chester B Whitley
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease resulting from deficiency in the α-L-iduronidase (IDUA) hydrolase and subsequent accumulation of glycosaminoglycan (GAG). Clinically, enzyme replacement therapy (ERT) with IDUA achieves negligible neurological benefits presumably due to blood-brain-barrier (BBB) limitations. To investigate the plant lectin ricin B chain (RTB) as a novel carrier for enzyme delivery to the brain, an IDUA:RTB fusion protein (IDUAL), produced in N. benthamiana leaves, was tested in a murine model of Hurler syndrome (MPS I)...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29196752/combined-genetic-approaches-yield-a-48-diagnostic-rate-in-a-large-cohort-of-french-hearing-impaired-patients
#12
D Baux, C Vaché, C Blanchet, M Willems, C Baudoin, M Moclyn, V Faugère, R Touraine, B Isidor, D Dupin-Deguine, M Nizon, M Vincent, S Mercier, C Calais, G García-García, Z Azher, L Lambert, Y Perdomo-Trujillo, F Giuliano, M Claustres, M Koenig, M Mondain, A F Roux
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patients. We present the results of a two-year period of molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS of 74 genes, and (iii) additional approaches including Copy Number Variations, in silico analyses, minigene studies coupled when appropriate with complete gene sequencing, and a specific assay for STRC...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29190556/null-space-monte-carlo-particle-tracking-to-assess-groundwater-pce-tetrachloroethene-diffuse-pollution-in-north-eastern-milan-functional-urban-area
#13
Luca Alberti, Loris Colombo, Giovanni Formentin
The Lombardy Region in Italy is one of the most urbanized and industrialized areas in Europe. The presence of countless sources of groundwater pollution is therefore a matter of environmental concern. The sources of groundwater contamination can be classified into two different categories: 1) Point Sources (PS), which correspond to areas releasing plumes of high concentrations (i.e. hot-spots) and 2) Multiple-Point Sources (MPS) consisting in a series of unidentifiable small sources clustered within large areas, generating an anthropogenic diffuse contamination...
November 27, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/29170142/a-robust-microparticle-platform-for-a-sting-targeted-adjuvant-that-enhances-both-humoral-and-cellular-immunity-during-vaccination
#14
Robert D Junkins, Matthew D Gallovic, Brandon M Johnson, Michael A Collier, Rebekah Watkins-Schulz, Ning Cheng, Clément N David, Charles E McGee, Gregory D Sempowski, Ivo Shterev, Karen McKinnon, Eric M Bachelder, Kristy M Ainslie, Jenny P-Y Ting
Most FDA-approved adjuvants for infectious agents boost humoral but not cellular immunity, and have poorly-understood mechanisms. Stimulator of interferon genes (STING, also known as MITA, MPYS, or ERIS) is an exciting adjuvant target due to its role in cyclic dinucleotide (CDN)-driven anti-viral immunity; however, a major hindrance is STING's cytosolic localization which requires intracellular delivery of its agonists. As a result, STING agonists administered in a soluble form have elicited suboptimal immune responses...
November 20, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29170079/practical-management-of-behavioral-problems-in-mucopolysaccharidoses-disorders
#15
REVIEW
Maria L Escolar, Simon A Jones, Elsa G Shapiro, Dafne D G Horovitz, Christina Lampe, Hernán Amartino
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. Excessive GAG storage can lead to a variety of somatic manifestations as well as primary and secondary neurological symptoms. Behavioral problems (like hyperactivity, attention difficulties, and severe frustration) and sleeping problems are typical primary neurological symptoms of MPS caused by GAG accumulation in neurons, and are frequently observed in patients with MPS I, II, III, and VII...
September 27, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29159202/a-humoral-immune-response-alters-the-distribution-of-enzyme-replacement-therapy-in-murine-mucopolysaccharidosis-type-i
#16
Steven Q Le, Shih-Hsin Kan, Don Clarke, Valentina Sanghez, Martin Egeland, Kristen N Vondrak, Terence M Doherty, Moin U Vera, Michelina Iacovino, Jonathan D Cooper, Mark S Sands, Patricia I Dickson
Antibodies against recombinant proteins can significantly reduce their effectiveness in unanticipated ways. We evaluated the humoral response of mice with the lysosomal storage disease mucopolysaccharidosis type I treated with weekly intravenous recombinant human alpha-l-iduronidase (rhIDU). Unlike patients, the majority of whom develop antibodies to recombinant human alpha-l-iduronidase, only approximately half of the treated mice developed antibodies against recombinant human alpha-l-iduronidase and levels were low...
March 16, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29153844/treatment-of-brain-disease-in-the-mucopolysaccharidoses
#17
REVIEW
Maurizio Scarpa, Paul J Orchard, Angela Schulz, Patricia I Dickson, Mark E Haskins, Maria L Escolar, Roberto Giugliani
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. These disorders are characterized by their progressive nature and a variety of somatic manifestations and neurological symptoms. There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease...
October 16, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#18
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29128546/a-1204-single-nucleotide-polymorphism-and-insertion-deletion-polymorphism-panel-for-massively-parallel-sequencing-analysis-of-dna-mixtures
#19
Hsiao-Lin Hwa, Wan-Chia Chung, Pei-Lung Chen, Chih-Peng Lin, Huei-Ying Li, Hsiang-I Yin, James Chun-I Lee
Massively parallel sequencing (MPS) technology enables the simultaneous analysis of a huge number of single nucleotide polymorphisms (SNPs) and insertion-deletion polymorphisms (indels). MPS also enables the detection of the alleles of minor contributors in a highly unbalanced DNA mixture. In this study, we established a 1204-marker panel optimized for MPS consisting of 987 autosomal markers (964 SNPs and 23 indels), 27 X-chromosome SNPs, 61 Y-chromosome markers (56 SNPs and 5 indels), and 129 mitochondrial SNPs...
November 6, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#20
REVIEW
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. Neurological symptoms have a substantial impact on the quality of life of MPS patients and their families...
September 15, 2017: Molecular Genetics and Metabolism
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