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https://www.readbyqxmd.com/read/28768577/microplastics-in-livers-of-european-anchovies-engraulis-encrasicolus-l
#1
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...
July 30, 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
#2
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
#3
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/28673849/hematopoietic-stem-cell-transplantation-for-patients-with-mucopolysaccharidosis-ii
#4
Francyne Kubaski, Hiromasa Yabe, Yasuyuki Suzuki, Toshiyuki Seto, Takashi Hamazaki, Robert W Mason, Li Xie, Tor Gunnar Hugo Onsten, Sandra Leistner-Segal, Roberto Giugliani, Vũ Chí Dũng, Can Thi Bich Ngoc, Seiji Yamaguchi, Adriana M Montaño, Kenji E Orii, Toshiyuki Fukao, Haruo Shintaku, Tadao Orii, Shunji Tomatsu
There is limited information regarding the long-term outcomes of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis II (MPS II). In this study, clinical, biochemical, and radiologic findings were assessed in patients who underwent HSCT and/or enzyme replacement therapy (ERT). Demographic data for 146 HSCT patients were collected from 27 new cases and 119 published cases and were compared with 51 ERT and 15 untreated cases. Glycosaminoglycan (GAG) levels were analyzed by liquid chromatography tandem mass spectrometry in blood samples from HSCT, ERT, and untreated patients as well as age-matched controls...
July 1, 2017: Biology of Blood and Marrow Transplantation
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
#5
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
#6
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
#7
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/28610913/correlation-between-urinary-gag-and-anti-idursulfase-ert-neutralizing-antibodies-during-treatment-with-nicit-immune-tolerance-regimen-a-case-report
#8
Sarah Kim, Chester B Whitley, Jeanine R Jarnes Utz
INTRODUCTION: Antibodies to intravenous idursulfase enzyme replacement therapy (ERT) for patients with Hunter syndrome (mucopolysaccharidosis type II, MPS II) can have a harmful clinical impact, including both increasing risk of infusion reactions and inhibiting therapeutic activity. Thus, failure to monitor anti-idursulfase antibodies and neutralizing antibodies, and delays in reporting results, may postpone critical clinical decisions. HYPOTHESIS: Urinary glycosaminoglycan (GAG) levels may be used as a biomarker for anti-idursulfase antibodies and neutralizing antibodies to improve timeliness in monitoring and managing ERT...
June 3, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28595941/epidemiology-of-mucopolysaccharidoses
#9
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/28588666/molecular-analysis-of-the-novel-ids-allele-in-a-thai-family-with-mucopolysaccharidosis-type-ii-the-c-928c-t-p-gln310-transcript-is-sensitive-to-nonsense-mediated-mrna-decay
#10
Lukana Ngiwsara, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Phannee Sawangareetrakul, Voraratt Champattanachai, James R Ketudat-Cairns, Jisnuson Svasti
Hunter syndrome (or mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder induced by a deficiency of the iduronate 2-sulfatase (IDS) enzyme, resulting in the accumulation of glycosaminoglycan substrates, heparan sulfate and dermatan sulfate, in the lysosomes. The progressive accumulation of undegraded metabolites induces cell and tissue dysfunction, leading to multi-systemic pathology. The heterogeneity of clinical phenotypes, ranging from mild to severe forms, results from different mutations in the IDS gene...
June 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28577407/time-resolved-immunoassay-based-on-magnetic-particles-for-the-detection-of-diethyl-phthalate-in-environmental-water-samples
#11
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
#12
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
#13
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 26, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28543354/genotype-phenotype-relationship-in-mucopolysaccharidosis-ii-predictive-power-of-ids-variants-for-the-neuronopathic-phenotype
#14
Audrey A M Vollebregt, Marianne Hoogeveen-Westerveld, Marian A Kroos, Esmee Oussoren, Iris Plug, George J Ruijter, Ans T van der Ploeg, W W M Pim Pijnappel
AIM: Mucopolysaccharidosis type II (MPS II) is caused by variants in the iduronate-2-sulphatase gene (IDS). Patients can be either neuronopathic with intellectual disability, or non-neuronopathic. Few studies have reported on the IDS genotype-phenotype relationship and on the molecular effects involved. We addressed this in a cohort study of Dutch patients with MPS II. METHOD: Intellectual performance was assessed for school performance, behaviour, and intelligence...
May 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28540187/case-report-of-treatment-experience-with-idursulfase-beta-hunterase-in-an-adolescent-patient-with-mps-ii
#15
Lock-Hock Ngu, Winnie Ong Peitee, Huey Yin Leong, Hui Bein Chew
Mucopolysaccharidosis (MPS) II or Hunter syndrome is a chronic, progressive, multi-systemic illness associated with significant morbidity and early mortality. Available evidence in Asian populations shows that Hunter syndrome has a mean age of onset of 2 to 5 years and a life expectancy of 13 years in more severely affected individuals, with respiratory failure reported as the leading cause of death. Enzyme replacement therapy (ERT) with idursulfase (Elaprase, Shire Pharmaceuticals) and idursulfase beta (Hunterase, Green Cross Corp) are the only approved treatment for patients with MPS II...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28516041/birth-weight-in-patients-with-mucopolysaccharidosis-type-ii-data-from-the-hunter-outcome-survey-hos
#16
Olaf Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter Outcome Survey (HOS). This analysis indicated that birth weight is not an early marker of MPS II and is not associated with disease severity. It remains important to investigate the utility of other factors for early/pre-symptomatic diagnosis.
June 2017: Molecular Genetics and Metabolism Reports
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
#17
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
#18
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
#19
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/28478695/prevention-of-neurocognitive-deficiency-in-mucopolysaccharidosis-type-ii-mice-by-central-nervous-system-directed-aav9-mediated-iduronate-sulfatase-gene-transfer
#20
Kanut Laoharawee, Kelly M Podetz-Pedersen, Tam T Nguyen, Laura B Evenstar, Kelley F Kitto, Zhenhong Nan, Carolyn A Fairbanks, Walter C Low, Karen F Kozarsky, R Scott McIvor
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive lysosomal disorder caused by defective iduronate-2-sulfatase (IDS), resulting in accumulation of heparan sulfate and dermatan sulfate glycosaminoglycans (GAGs). Enzyme replacement is the only Food and Drug Administration-approved therapy available for MPS II, but it is expensive and does not improve neurologic outcomes in MPS II patients. This study evaluated the effectiveness of adeno-associated virus (AAV) vector encoding human IDS delivered intracerebroventricularly in a murine model of MPS II...
August 2017: Human Gene Therapy
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