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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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 producing dramatically enhanced yields for a variety of recombinant MPs of both prokaryotic and eukaryotic origin. Here, we investigated the functional requirements for DjlA- and RraA-mediated enhancement of recombinant MP production in these strains and show that: (i) DjlA and RraA act independently, i...
May 10, 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
#7
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...
May 7, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28478695/prevention-of-neurocognitive-deficiency-in-mucopolysaccharidosis-type-ii-mice-by-cns-directed-aav9-mediated-iduronate-sulfatase-gene-transfer
#8
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 FDA-approved therapy available for MPS II, but it is expensive and does not improve neurologic outcomes in MPS II patients. We conducted this study to evaluate the effectiveness of adeno-associated virus (AAV) vector encoding human IDS delivered intracerebroventricularly in a murine model of MPS II...
May 6, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28464912/ten-years-of-the-hunter-outcome-survey-hos-insights-achievements-and-lessons-learned-from-a-global-patient-registry
#9
REVIEW
Joseph Muenzer, Simon A Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles, David A H Whiteman
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available in the form of enzyme replacement therapy with intravenous idursulfase (Elaprase®, Shire). Since 2005, the Hunter Outcome Survey (HOS) has collected real-world, long-term data on the safety and effectiveness of this therapy, as well as the natural history of MPS II...
May 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28462595/intranasal-aav-mediated-gene-delivery-and-expression-of-human-iduronidase-in-the-cns-a-non-invasive-and-effective-approach-for-prevention-of-neurologic-disease-in-mucopolysaccharidosis-type-i
#10
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 Ii, Walter C Low, R Scott McIvor
Mucopolysaccharidosis type I (MPS I) is a progressive, multisystemic, inherited metabolic disease caused by deficiency of -L-iduronidase (IDUA). Current treatments for this disease are ineffective in treating CNS disease due to the inability of lysosomal enzymes to traverse the blood-brain barrier. We have taken a non-invasive and effective approach to the treatment of CNS disease by intranasal administration of an IDUA-encoding adeno-associated virus serotype 9 (AAV9) vector. Adult IDUA-deficient mice were immunotolerized at birth with human iduronidase (Aldurazyme), to prevent anti-IDUA immune response, and at 3 months of age were instilled intranasally with AAV9-IDUA vector...
May 2, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28458178/synchrotron-x-ray-diffraction-to-understand-crystallographic-texture-of-enamel-affected-by-hunter-syndrome
#11
Malik Arshman Khan, Owen Addison, Alison James, Christian J Hendriksz, Maisoon Al-Jawad
OBJECTIVE: To determine whether Hunter syndrome (MPS II) affects the crystallographic texture (preferred orientation) of enamel. DESIGN: Synchrotron X-ray diffraction, being a state of the art technique, has been used to determine the enamel crystallite orientation in enamel affected by Hunter syndrome (MPS II). The incisal, lingual and cervical regions of the MPS II affected tooth were observed and compared to healthy tooth. RESULTS: It was observed that there is a loss of organization of crystallites in deciduous incisal enamel affected by Hunter syndrome (MPS II) as compared to healthy deciduous enamel tissue...
April 20, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28451919/a-novel-conditional-sgsh-knockout-mouse-model-recapitulates-phenotypic-and-neuropathic-deficits-of-sanfilippo-syndrome
#12
Adeline A Lau, Barbara M King, Carly L Thorsen, Sofia Hassiotis, Helen Beard, Paul J Trim, Lauren S Whyte, Sarah J Tamang, Stephen K Duplock, Marten F Snel, John J Hopwood, Kim M Hemsley
Mucopolysaccharidosis (MPS) type IIIA, or Sanfilippo syndrome, is a neurodegenerative lysosomal storage disorder caused by a deficiency of the lysosomal enzyme N-sulfoglucosamine sulfohydrolase (SGSH), involved in the catabolism of heparan sulfate. The clinical spectrum is broad and the age of symptom onset and the degree of preservation of cognitive and motor functions appears greatly influenced by genotype. To explore this further, we generated a conditional knockout (Sgsh (KO) ) mouse model with ubiquitous Sgsh deletion, and compared the clinical and pathological phenotype with that of the spontaneous Sgsh (D31N) MPS-IIIA mouse model...
April 27, 2017: Journal of Inherited Metabolic Disease
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
#13
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 char-acterized for tripeptidyl peptidase 1 (TPP1), α-N-acetylglucosaminidase (NAGLU), and lysosomal β-glucuronidase (GUSB)...
April 20, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28426871/macular-pigment-density-and-quantitative-fundus-autofluorescence-in-young-healthy-subjects
#14
Chiara M Eandi, Marco Nassisi, Carlo Lavia, Camilla Alovisi, Ugo de Sanctis
Purpose: To measure macular pigment (MP) and find possible correlation between heterochromatic flicker photometry (HFP) and quantitative autofluorescence (qAF) in young healthy subjects. Methods: We enrolled 80 eyes of 40 young healthy subjects. Macular pigment optical density (MPOD) was automatically calculated with a macular pigment screener (MPS; MPODHFP). We calculated qAF comparing gray levels (GL) of qAF images with GL of internal reference of a confocal scanning laser ophthalmoscopy...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28409533/control-of-oxygen-tension-recapitulates-zone-specific-functions-in-human-liver-microphysiology-systems
#15
Felipe T Lee-Montiel, Subin M George, Albert H Gough, Anup D Sharma, Juanfang Wu, Richard DeBiasio, Lawrence A Vernetti, D Lansing Taylor
This article describes our next generation human Liver Acinus MicroPhysiology System (LAMPS). The key demonstration of this study was that Zone 1 and Zone 3 microenvironments can be established by controlling the oxygen tension in individual devices over the range of ca. 3 to 13%. The oxygen tension was computationally modeled using input on the microfluidic device dimensions, numbers of cells, oxygen consumption rates of hepatocytes, the diffusion coefficients of oxygen in different materials and the flow rate of media in the MicroPhysiology System (MPS)...
January 1, 2017: Experimental Biology and Medicine
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
#16
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
https://www.readbyqxmd.com/read/28267162/multi-functional-scaling-methodology-for-translational-pharmacokinetic-and-pharmacodynamic-applications-using-integrated-microphysiological-systems-mps
#17
Christian Maass, Cynthia L Stokes, Linda G Griffith, Murat Cirit
Microphysiological systems (MPS) provide relevant physiological environments in vitro for studies of pharmacokinetics, pharmacodynamics and biological mechanisms for translational research. Designing multi-MPS platforms is essential to study multi-organ systems. Typical design approaches, including direct and allometric scaling, scale each MPS individually and are based on relative sizes not function. This study's aim was to develop a new multi-functional scaling approach for integrated multi-MPS platform design for specific applications...
April 18, 2017: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/28264742/differential-surface-glycoprofile-of-buffalo-bull-spermatozoa-during-mating-and-non-mating-periods
#18
G Accogli, G M Lacalandra, G Aiudi, S N Cox, S Desantis
The buffalo has a seasonal reproduction activity with mating and non-mating periods occurring from late autumn to winter and from late spring to beginning of autumn, respectively. Sperm glycocalyx plays an important role in reproduction as it is the first interface between sperm and environment. Semen quality is poorer during non-mating periods, so we aimed to evaluate if there were also seasonal differences in the surface glycosylation pattern of mating period spermatozoa (MPS) compared with non-mating period spermatozoa (NMPS)...
March 7, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28243577/evaluation-of-impact-of-anti-idursulfase-antibodies-during-long-term-idursulfase-enzyme-replacement-therapy-in-mucopolysaccharidosis-ii-patients
#19
R Giugliani, P Harmatz, S A Jones, N J Mendelsohn, A Vellodi, Y Qiu, C J Hendriksz, S Vijayaraghavan, D A H Whiteman, A Pano
OBJECTIVES: This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effect of idursulfase-specific antibody generation on treatment safety (via infusion-related adverse events [IRAEs]) and pharmacodynamics (via urinary glycosaminoglycans [uGAGs]). METHODS: Male patients ≥ 5 years, enrolled in HOS regardless of idursulfase treatment status were eligible...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28223066/audiological-findings-in-children-with-mucopolysaccharidoses-type-i-iv
#20
María F Vargas-Gamarra, Carlos de Paula-Vernetta, Isidro Vitoria Miñana, Isabel Ibañez-Alcañiz, Laura Cavallé-Garrido, Agustín Alamar-Velazquez
OBJECTIVE: The aim of our study is to reflect hearing impairment of 23children diagnosed with mucopolysaccharidosis (MPS) typeI, II, III and IV. METHODS: Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23children diagnosed with MPS typeI, II, III or IV followed at a Tertiary Referral Hospital between 1997 and 2015. RESULTS: Six cases of MPSI, 8 of MPSII, 4 of MPSIII and 5 of MPSIV were reviewed...
February 18, 2017: Acta Otorrinolaringológica Española
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