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https://www.readbyqxmd.com/read/28921412/how-close-are-we-to-therapies-for-sanfilippo-disease
#1
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
#2
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/28890560/perfusion-index-as-a-predictor-of-hypotension-following-spinal-anaesthesia-in-lower-segment-caesarean-section
#3
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/28845875/-cardiologists-and-mucopolysaccharidoses-recommendations-of-gicem-cardiology-experts-on-metabolic-disease-italian-group-for-diagnosis-follow-up-and-cardiological-management
#4
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/28768577/microplastics-in-livers-of-european-anchovies-engraulis-encrasicolus-l
#5
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/28761530/contribution-of-the-xenograft-bone-plate-screw-system-in-lumbar-transpedicular-stabilization-an-in-vivo-study-in-dogs
#6
Sani Sarigul, Hakan Salci, Huseyin Lekesiz, Seref Dogan, Resat Ozcan, Osman Sacit Gorgul, Kaya Aksoy
OBJECTIVES: Xenograft bone plate-screws (XBPSs) can be alternative tools in lumbar transpedicular stabilization (TS). The aim of this study was to show biomechanical and histopathological contribution of the XBPSs system in lumbar TS. MATERIALS AND METHODS: Fifteen (n = 15) hybrid dog and ten (n = 10) L2-4 cadaveric specimens were included in the study. The dogs were separated according to surgical techniques: L3 laminectomy and bilateral facetectomy (LBF) in Group I (experimental group [EG I] (n = 5), L3 LBF plus TS with metal plate-screws (MPSs) in Group II (EG II) (n = 5), and L3 LBF plus TS with XBPSs in Group III (EG III) (n = 5)...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28733853/cerebral-magnetic-resonance-findings-during-enzyme-replacement-therapy-in-mucopolysaccharidosis
#7
Yoshiko Matsubara, Osamu Miyazaki, Motomichi Kosuga, Torayuki Okuyama, Shunsuke Nosaka
BACKGROUND: Although enzyme replacement therapy (ERT) is an effective treatment for mucopolysaccharidosis (MPS) types I, II, IVA and VI, its effectiveness in children with central nervous system (CNS) disorders is said to be poor because the blood-brain barrier cannot be penetrated by ERT drugs. OBJECTIVE: To assess CNS involvement in mucopolysaccharidosis at the start of enzyme replacement therapy and to investigate the time course of ERT in the central nervous system...
July 21, 2017: Pediatric Radiology
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
#8
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/28660346/adeno-associated-viral-gene-therapy-for-mucopolysaccharidoses-exhibiting-neurodegeneration
#9
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/28649514/early-hematopoietic-stem-cell-transplantation-in-a-patient-with-severe-mucopolysaccharidosis-ii-a-7%C3%A2-years-follow-up
#10
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/28595941/epidemiology-of-mucopolysaccharidoses
#11
Shaukat A Khan, Hira Peracha, Diana Ballhausen, Alfred Wiesbauer, Marianne Rohrbach, Matthias Gautschi, Robert W Mason, Roberto Giugliani, Yasuyuki Suzuki, Kenji E Orii, Tadao Orii, Shunji Tomatsu
The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1...
July 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28577407/time-resolved-immunoassay-based-on-magnetic-particles-for-the-detection-of-diethyl-phthalate-in-environmental-water-samples
#12
Fang Zhu, Chaoming Mao, Daolin Du
Diethyl phthalate (DEP) is an extensively used phthalic acid diester (PAEs) with estrogenic activity and the potential for carcinogenic and teratogenic effects. To monitor trace DEP in environmental waters, a sensitive direct competitive time-resolved fluoroimmunoassay based on magnetic particles (MPs) as solid support was established. For the assay system, the anti-DEP antibody was oriented on the surface of the MPs using goat anti-rabbit antibody as linkers, and DEP-OVA was labeled using Eu(3+). Several physicochemical factors that potentially influence the assay performance of the proposed method were investigated in detail, including concentration of MPs, dilution of DEP-OVA-Eu(3+) and incubation time...
December 1, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28560179/the-factors-affecting-lipid-profile-in-adult-patients-with-mucopolysaccharidosis
#13
Karolina M Stepien, Fiona J Stewart, Chris J Hendriksz
BACKGROUND: Mucopolysaccharidoses (MPS) are a group of rare inherited disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) within the myocytes and coronary arteries. Little is known about hyperlipidaemia as a potential cardiovascular risk factor in these patients. Baseline cholesterol data in adults are scarce. Therefore, the aim of this study was to analyse factors affecting lipid profile in different types of MPSs to determine if abnormalities in lipid profile contribute to the overall risk of cardiovascular disease...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28549119/systematic-review-of-cost-effectiveness-of-myocardial-perfusion-scintigraphy-in-patients-with-ischaemic-heart-disease-a-report-from-the-cardiovascular-committee-of-the-european-association-of-nuclear-medicine-endorsed-by-the-european-association-of-cardiovascular
#14
Elin Trägårdh, Siok Swan Tan, Jan Bucerius, Alessia Gimelli, Oliver Gaemperli, Oliver Lindner, Denis Agostini, Christopher Übleis, Roberto Sciagrà, Riemer H Slart, S Richard Underwood, Fabien Hyafil, Marcus Hacker, Hein J Verberne
Coronary artery disease (CAD) is a major cause of death and disability. Several diagnostic tests, such as myocardial perfusion scintigraphy (MPS), are accurate for the detection of CAD, as well as having prognostic value for the prediction of cardiovascular events. Nevertheless, the diagnostic and prognostic value of these tests should be cost-effective and should lead to improved clinical outcome. We have reviewed the literature on the cost-effectiveness of MPS in different circumstances: (i) the diagnosis and management of CAD; (ii) comparison with exercise electrocardiography (ECG) and other imaging tests; (iii) as gatekeeper to invasive coronary angiography (ICA), (iv) the impact of appropriate use criteria; (v) acute chest pain, and (vi) screening of asymptomatic patients with type-2 diabetes...
May 1, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28506702/cognitive-and-adaptive-measurement-endpoints-for-clinical-trials-in-mucopolysaccharidoses-types-i-ii-and-iii-a-review-of-the-literature
#15
REVIEW
Darren Janzen, Kathleen A Delaney, Elsa G Shapiro
Sensitive, reliable measurement instruments are critical for the evaluation of disease progression and new treatments that affect the brain in the mucopolysaccharidoses (MPS). MPS I, II, and III have early onset clinical phenotypes that affect the brain during development and result in devastating cognitive decline and ultimately death without treatment. Comparisons of outcomes are hindered by diverse protocols and approaches to assessment including applicability to international trials necessary in rare diseases...
May 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28501587/functional-requirements-for-djla-and-rraa-mediated-enhancement-of-recombinant-membrane-protein-production-in-the-engineered-escherichia-coli-strains-suptoxd-and-suptoxr
#16
Dimitra Gialama, Dafni Chrysanthi Delivoria, Myrsini Michou, Artemis Giannakopoulou, Georgios Skretas
In previous work, we have generated the engineered Escherichia coli strains SuptoxD and SuptoxR, which upon co-expression of the effector genes djlA or rraA, respectively, are capable of suppressing the cytotoxicity caused by membrane protein (MP) overexpression and of producing dramatically enhanced yields for a variety of recombinant MPs of both prokaryotic and eukaryotic origin. Here, we investigated the functional requirements for DnaJ-like protein A (DjlA)- and regulator of ribonuclease activity A (RraA)-mediated enhancement of recombinant MP production in these strains and show that: (i) DjlA and RraA act independently, that is, the beneficial effects of each protein on recombinant MP production occur through a mechanism that does not involve the other, and in a non-additive manner; (ii) full-length and membrane-bound DjlA is required for exerting its beneficial effects on recombinant MP production in E...
June 16, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28494282/anthropogenic-fibres-in-the-baltic-sea-water-column-field-data-laboratory-and-numerical-testing-of-their-motion
#17
A Bagaev, A Mizyuk, L Khatmullina, I Isachenko, I Chubarenko
Distribution of microplastics particles (MPs) in the water column is investigated on the base of 95 water samples collected from various depths in the Baltic Sea Proper in 2015-2016. Fibres are the prevalent type of MPs: 7% of the samples contained small films; about 40% had (presumably) paint flakes, while 63% contained coloured fibres in concentrations from 0.07 to 2.6 items per litre. Near-surface and near-bottom layers (defined as one tenth of the local depth) have 3-5 times larger fibre concentrations than intermediate layers...
December 1, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28462595/intranasal-adeno-associated-virus-mediated-gene-delivery-and-expression-of-human-iduronidase-in-the-central-nervous-system-a-noninvasive-and-effective-approach-for-prevention-of-neurologic-disease-in-mucopolysaccharidosis-type-i
#18
Lalitha R Belur, Alexa Temme, Kelly M Podetz-Pedersen, Maureen Riedl, Lucy Vulchanova, Nicholas Robinson, Leah R Hanson, Karen F Kozarsky, Paul J Orchard, William H Frey, Walter C Low, R Scott McIvor
Mucopolysaccharidosis type I (MPS I) is a progressive, multi-systemic, inherited metabolic disease caused by deficiency of α-L-iduronidase (IDUA). Current treatments for this disease are ineffective in treating central nervous system (CNS) disease due to the inability of lysosomal enzymes to traverse the blood-brain barrier. A noninvasive and effective approach was taken in the treatment of CNS disease by intranasal administration of an IDUA-encoding adeno-associated virus serotype 9 (AAV9) vector. Adult IDUA-deficient mice aged 3 months were instilled intranasally with AAV9-IDUA vector...
July 2017: Human Gene Therapy
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
#19
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 characterized for tripeptidyl peptidase 1 (TPP1), α-N-acetylglucosaminidase (NAGLU), and lysosomal β-glucuronidase (GUSB)...
June 2017: Clinical Chemistry
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
#20
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
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