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https://www.readbyqxmd.com/read/28935228/frequencies-of-the-precision-id-ancestry-panel-markers-in-basques-using-the-ion-torrent-pgm-tm-platform
#1
O García, J A Ajuriagerra, A Alday, S Alonso, J A Pérez, A Soto, I Uriarte, I Yurrebaso
The Precision ID Ancestry Panel for the Ion Torrent PGM™ platform is able to genotype 165 autosomal SNPs by massively parallel sequencing (MPS). In the present study, we evaluated the depth of coverage, the locus strand balance and the heterozygote balance of the above panel. The SNPs rs1569175, rs2306040, rs9845457, rs1407434, and rs10007810 showed a low performance, due either to a low coverage, locus strand imbalance or heterozygote imbalance. To further to assess this panel, we analyzed 108 Basques. All loci proved to be in Hardy-Weinberg equilibrium and we did not detect any association between them with the exception of the pair rs3916235-rs4891825 in chromosome 18...
September 12, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28934395/abnormal-polyamine-metabolism-is-unique-to-the-neuropathic-forms-of-mps-potential-for-biomarker-development-and-insight-into-pathogenesis
#2
Christian Hinderer, Nathan Katz, Jean-Pierre Louboutin, Peter Bell, Jakub Tolar, Paul J Orchard, Troy C Lund, Mohamad Nayal, Liwei Weng, Clementina Mesaros, Carolina F M de Souza, Amauri Dalla Corte, Roberto Giugliani, James M Wilson
The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurological symptoms. Development of treatments for the neurological manifestations of MPS has been hindered by the lack of objective measures of central nervous system disease burden. Identification of biomarkers for central nervous system disease in MPS patients would facilitate the evaluation of new agents in clinical trials. High throughput metabolite screening of cerebrospinal fluid (CSF) samples from a canine model of MPS I revealed a marked elevation of the polyamine, spermine, in affected animals, and gene therapy studies demonstrated that reduction of CSF spermine reflects correction of brain lesions in these animals...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28933729/structure-and-catalysis-of-fe-iii-and-cu-ii-microperoxidase-11-interacting-with-the-positively-charged-interfaces-of-lipids
#3
Tatiana Prieto, Vinicius Santana, Adrianne M M Britto, Juliana C Araujo-Chaves, Otaciro R Nascimento, Iseli L Nantes-Cardoso
Numerous applications have been described for microperoxidases (MPs) such as in photoreceptors, sensing, drugs, and hydrogen evolution. The last application was obtained by replacing Fe(III), the native central metal, by cobalt ion and inspired part of the present study. Here, the Fe(III) of MP-11 was replaced by Cu(II) that is also a stable redox state in aerated medium, and the structure and activity of both MPs were modulated by the interaction with the positively charged interfaces of lipids. Comparative spectroscopic characterization of Fe(III) and Cu(II)MP-11 in the studied media demonstrated the presence of high and low spin species with axial distortion...
July 26, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28933358/substrate-deprivation-therapy-to-reduce-glycosaminoglycan-synthesis-improves-aspects-of-neurological-and-skeletal-pathology-in-mps-i-mice
#4
Ainslie L K Derrick-Roberts, Matilda R Jackson, Carmen E Pyragius, Sharon Byers
Mucopolysaccharidosis type I (MPS I) is the most common form of the MPS group of genetic diseases. MPS I results from a deficiency in the lysosomal enzyme α-l-iduronidase, leading to accumulation of undegraded heparan and dermatan sulphate glycosaminoglycan (GAG) chains in patient cells. MPS children suffer from multiple organ failure and die in their teens to early twenties. In particular, MPS I children also suffer from profound mental retardation and skeletal disease that restricts growth and movement. Neither brain nor skeletal disease is adequately treated by current therapy approaches...
February 23, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28932756/non-clinical-safety-and-efficacy-of-an-aav2-8-vector-administered-intravenously-for-treatment-of-mucopolysaccharidosis-type-vi
#5
Rita Ferla, Marialuisa Alliegro, Jean-Brice Marteau, Margherita Dell'Anno, Edoardo Nusco, Severine Pouillot, Stefania Galimberti, Maria Grazia Valsecchi, Vincent Zuliani, Alberto Auricchio
In vivo gene therapy with adeno-associated viral (AAV) vectors is safe and effective in humans. We recently demonstrated that AAV8-mediated liver gene transfer is effective in animal models of mucopolysaccharidosis type VI (MPS VI), a rare lysosomal storage disease that is caused by arylsulfatase B (ARSB) deficiency. In preparing for a first-in-human trial, we performed non-clinical studies to assess the safety of intravenous administrations of AAV2/8.TBG.hARSB produced under good manufacturing practice-like conditions...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28928453/molecular-characterization-of-emaraviruses-associated-with-pigeonpea-sterility-mosaic-disease
#6
Surender Kumar, B L Subbarao, Vipin Hallan
Sterility Mosaic Disease (SMD) of pigeonpea (Cajanus cajan (L.) Millspaugh) is a complex disease due to various factors including the presence of a mixed infection. Comparison of dsRNA profile and small RNA (sRNA) deep sequencing analysis of samples from three locations revealed the presence of Pigeonpea sterility mosaic virus-I and II (PPSMV-I and II) from Chevella and only PPSMV-II from Bengaluru and Coimbatore. PPSMV-I genome consisted of four while PPSMV-II encompassed six RNAs. The two viruses have modest sequence homology between their corresponding RNA 1-4 encoding RdRp, glycoprotein precursor, nucleocapsid and movement proteins and the corresponding orthologs of other emaraviruses...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28921412/how-close-are-we-to-therapies-for-sanfilippo-disease
#7
REVIEW
Lidia Gaffke, Karolina Pierzynowska, Ewa Piotrowska, Grzegorz Węgrzyn
Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of partially degraded glycosaminoglycans (GAGs). It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively...
September 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28918752/correlation-of-csf-flow-using-phase-contrast-mri-with-ventriculomegaly-and-csf-opening-pressure-in-mucopolysaccharidoses
#8
Amauri Dalla Corte, Carolina F M de Souza, Maurício Anés, Fabio K Maeda, Armelle Lokossou, Leonardo M Vedolin, Maria Gabriela Longo, Monica M Ferreira, Solanger G P Perrone, Olivier Balédent, Roberto Giugliani
BACKGROUND: Very little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS). The biggest challenge is to distinguish communicating hydrocephalus from ventricular dilatation secondary to brain atrophy, because both conditions share common clinical and neuroradiological features. The main purpose of this study is to assess the relationship between ventriculomegaly, brain and cerebrospinal fluid (CSF) volumes, aqueductal and cervical CSF flows, and CSF opening pressure in MPS patients, and to provide potential biomarkers for abnormal CSF circulation...
September 18, 2017: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/28912360/influence-of-past-injurious-exercise-on-fiber-type-specific-acute-anabolic-response-to-resistance-exercise-in-skeletal-muscle
#9
Ryo Takagi, Riki Ogasawara, Junya Takegaki, Arata Tsutaki, Koichi Nakazato, Naokata Ishii
We investigated influence of past injurious exercise on anabolic response of skeletal muscle fibers to resistance exercise (RE). Wistar rats were divided into exercise (E) and exercise after injury (I-E) groups. At age 10 wk, the right gastrocnemius muscle in each rat in the I-E group was subjected to strenuous eccentric contractions. Subsequently, RE was imposed on the same muscle of each rat at 14 wk of age in both groups. Peak joint torque and total force generation per body mass during RE were similar between the groups...
September 14, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28892147/carpal-tunnel-syndrome-in-mucopolysaccharidosis-i-a-registry-based-cohort-study
#10
David Viskochil, Joseph Muenzer, Nathalie Guffon, Christophe Garin, M Veronica Munoz-Rojas, Kristin A Moy, Douglas T Hutchinson
AIM: To characterize carpal tunnel syndrome (CTS) in patients with mucopolysaccharidosis I (MPS I). METHOD: Data were included for patients with MPS I who had either nerve conduction examination that included a diagnosis of CTS or who had CTS release surgery. Although this represented a subset of patients with CTS in the MPS I Registry, the criteria were considered the most objective for data analysis. RESULTS: As of March 2016, 994 patients were categorized with either severe (Hurler syndrome) or attenuated (Hurler-Scheie or Scheie syndromes) MPS I...
September 11, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28890560/perfusion-index-as-a-predictor-of-hypotension-following-spinal-anaesthesia-in-lower-segment-caesarean-section
#11
Devika Rani Duggappa, Mps Lokesh, Aanchal Dixit, Rinita Paul, R S Raghavendra Rao, P Prabha
BACKGROUND AND AIMS: Perfusion index (PI) is a new parameter tried for predicting hypotension during spinal anaesthesia for the lower segment caesarean section (LSCS). This study aimed at investigating the correlation between baseline perfusion index and incidence of hypotension following SAB in LSCS. METHODS: In this prospective observational study, 126 parturients were divided into two groups on the basis of baseline PI. Group I included parturients with PI of ≤3...
August 2017: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/28886899/frailty-and-subclinical-coronary-atherosclerosis-the-multicenter-aids-cohort-study-macs
#12
Sai Krishna C Korada, Di Zhao, Martin Tibuakuu, Todd T Brown, Lisa P Jacobson, Eliseo Guallar, Robert K Bolan, Frank J Palella, Joseph B Margolick, Jeremy J Martinson, Matthew J Budoff, Wendy S Post, Erin D Michos
BACKGROUND AND AIMS: Frailty and cardiovascular disease share many risk factors. We evaluated whether frailty is independently associated with subclinical coronary atherosclerosis and whether any relationships differ by HIV-serostatus. METHODS: We studied 976 [62% HIV-infected] male participants of the Multicenter AIDS Cohort Study who underwent assessment of frailty and non-contrast cardiac CT scanning; of these, 747 men also underwent coronary CT angiography (CCTA)...
August 26, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28882767/optimization-of-alginate-microcapsules-containing-cells-overexpressing-%C3%AE-l-iduronidase-using-box-behnken-design
#13
Dirnete Diel, Valeska Lizzi Lagranha, Roselena Silvestri Schuh, Fernanda Bruxel, Ursula Matte, Helder Ferreira Teixeira
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease caused by deficiency of α-l-iduronidase (IDUA), which results in the lysosomal accumulation of glycosaminoglycans (GAG) leading to widespread clinical manifestations. The microencapsulation of IDUA overexpressing recombinant cells has been considered as a promising strategy for the treatment of MPS I. This study aimed at the optimization of alginate microcapsules containing recombinant BHK (Baby Hamster Kidney) cells (rBHK) overexpressing IDUA produced by electrostatic extrusion technique...
September 4, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28859139/efficacy-and-safety-of-intravenous-laronidase-for-mucopolysaccharidosis-type-i-a-systematic-review-and-meta-analysis
#14
Alícia Dorneles Dornelles, Osvaldo Artigalás, André Anjos da Silva, Dora Lucia Vallejo Ardila, Taciane Alegra, Tiago Veiga Pereira, Filippo Pinto E Vairo, Ida Vanessa Doederlein Schwartz
OBJECTIVE: To evaluate the efficacy and safety of IV laronidase for MPS I. METHODS: A systematic literature review was performed by searching the ClinicalTrials.gov, MEDLINE/PubMed, EMBASE, LILACS, and Cochrane Library databases, limited to clinical trials published until December 31, 2016. The first inclusion criterion was being a randomized controlled trial (RCT). If < five RCTs were identified, open-label and nonrandomized trials, controlled or uncontrolled (quasi-experimental), including ≥ five patients, and evaluating relevant outcomes defined a priori, would also be included...
2017: PloS One
https://www.readbyqxmd.com/read/28858716/assessment-of-toxic-effects-of-magnetic-particles-used-for-lake-restoration-on-chlorella-sp-and-on-brachionus-calyciflorus
#15
I Álvarez-Manzaneda, I de Vicente
Laboratory tests, by following standardized Organization for Economic Co-operation and Development (OECD) protocols, were run for evaluating the acute effects of iron magnetic microparticles (MPs), recently proposed for lake restoration, on Chlorella sp. (algal growth) and on the rotifer B. calyciflorus (mortality). In addition, the MPs potential indirect effects on rotifer egg bank were assessed by performing hatching rate test with B. calyciflorus cysts in contact with dissolved iron (Tot-Fedis). In the algal growth test, no inhibition occurred at the two lowest MPs concentrations (0...
August 25, 2017: Chemosphere
https://www.readbyqxmd.com/read/28845875/-cardiologists-and-mucopolysaccharidoses-recommendations-of-gicem-cardiology-experts-on-metabolic-disease-italian-group-for-diagnosis-follow-up-and-cardiological-management
#16
Pierluigi Russo, Generoso Andria, Alessandra Baldinelli, Maria Lucia Boffi, Emma Cerini, Roberto Della Casa, Andrea Imperatori, Giovanni Battista Luciani, Elisa Morra, Rossella Parini, Maurizio Pieroni, Maria Antonia Prioli, Luca Ragni, Claudio Rapezzi, Gabriele Rinelli, Marta Rubino, Cristiano Sarais, Pietro Sciacca, Francesco Seddio, Giuseppe Limongelli
Mucopolysaccharidoses (MPS) represent a group of rare lysosomal storage disorders, with a heterogeneous clinical presentation in terms of inheritance (autosomal and X-linked recessive), age of onset (infants, children, and adults), systemic and cardiac manifestations (mild to severe disease forms). Evidence-based recommendations on the diagnosis and management of cardiovascular disease in MPS are scarce. GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) is a group of cardiologists, cardiac surgeons and pediatricians with a specific expertise in metabolic diseases including MPS...
September 2017: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/28842642/neonatal-umbilical-cord-blood-transplantation-halts-skeletal-disease-progression-in-the-murine-model-of-mps-i
#17
Isabella Azario, Alice Pievani, Federica Del Priore, Laura Antolini, Ludovica Santi, Alessandro Corsi, Lucia Cardinale, Kazuki Sawamoto, Francyne Kubaski, Bernhard Gentner, Maria Ester Bernardo, Maria Grazia Valsecchi, Mara Riminucci, Shunji Tomatsu, Alessandro Aiuti, Andrea Biondi, Marta Serafini
Umbilical cord blood (UCB) is a promising source of stem cells to use in early haematopoietic stem cell transplantation (HSCT) approaches for several genetic diseases that can be diagnosed at birth. Mucopolysaccharidosis type I (MPS-I) is a progressive multi-system disorder caused by deficiency of lysosomal enzyme α-L-iduronidase, and patients treated with allogeneic HSCT at the onset have improved outcome, suggesting to administer such therapy as early as possible. Given that the best characterized MPS-I murine model is an immunocompetent mouse, we here developed a transplantation system based on murine UCB...
August 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28802989/do-polyethylene-microplastic-beads-alter-the-intestinal-uptake-of-ag-in-rainbow-trout-oncorhynchus-mykiss-analysis-of-the-mp-vector-effect-using-in%C3%A2-vitro-gut-sacs
#18
Farhan R Khan, David Boyle, Elisabeth Chang, Nicolas R Bury
Microplastic (MP) vector effects have been well described in the literature but surprisingly little is in known about the impact of MPs on the intestinal uptake of contaminants. The present study aimed to determine whether the intestinal fate of Ag was affected by the presence of polyethylene MP beads. Ag (added as (110m)Ag) was introduced into the lumen of rainbow trout (Oncorhynchus mykiss) anterior/mid-intestine gut sac preparations as Ag only, Ag and MPs (co-exposure) and Ag-incubated MPs (where Ag was adsorbed to the MP)...
August 9, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28768577/microplastics-in-livers-of-european-anchovies-engraulis-encrasicolus-l
#19
France Collard, Bernard Gilbert, Philippe Compère, Gauthier Eppe, Krishna Das, Thierry Jauniaux, Eric Parmentier
Microplastics (MPs) are thought to be ingested by a wide range of marine organisms before being excreted. However, several studies in marine organisms from different taxa have shown that MPs and nanoplastics could be translocated in other organs. In this study, we investigated the presence of MPs in the livers of commercial zooplanktivorous fishes collected in the field. The study focuses mainly on the European anchovy Engraulis encrasicolus but concerns also the European pilchard Sardina pilchardus and the Atlantic herring Clupea harengus...
October 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28762517/immunoaffinity-based-methods-are-superior-to-kits-for-purification-of-prostate-derived-extracellular-vesicles-from-plasma-samples
#20
Sabine I Brett, Fabrice Lucien, Charles Guo, Karla C Williams, Yohan Kim, Paul N Durfee, C J Brinker, Joseph I Chin, Jun Yang, Hon S Leong
BACKGROUND: The ability to isolate extracellular vesicles (EVs) such as exosomes or microparticles is an important method that is currently not standardized. While commercially available kits offer purification of EVs from biofluids, such purified EV samples will also contain non-EV entities such as soluble protein and nucleic acids that could confound subsequent experimentation. Ideally, only EVs would be isolated and no soluble protein would be present in the final EV preparation. METHODS: We compared commercially available EV isolation kits with immunoaffinity purification techniques and evaluated our final EV preparations using atomic force microscopy (AFM) and nanoscale flow cytometry (NFC)...
May 2017: Prostate
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