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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
#1
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
#2
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
#3
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...
May 26, 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
#4
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
#5
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...
May 31, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28560179/the-factors-affecting-lipid-profile-in-adult-patients-with-mucopolysaccharidosis
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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...
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
#13
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-cns-directed-aav9-mediated-iduronate-sulfatase-gene-transfer
#14
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
#15
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-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
#16
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, 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...
April 20, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28458178/synchrotron-x-ray-diffraction-to-understand-crystallographic-texture-of-enamel-affected-by-hunter-syndrome
#17
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...
August 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
#18
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
#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/28426871/macular-pigment-density-and-quantitative-fundus-autofluorescence-in-young-healthy-subjects
#20
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
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