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mucopolysaccharidosis

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https://www.readbyqxmd.com/read/29153846/surgical-management-of-neurological-manifestations-of-mucopolysaccharidosis-disorders
#1
REVIEW
Tord D Alden, Hernán Amartino, Amauri Dalla Corte, Christina Lampe, Paul R Harmatz, Leonardo Vedolin
The mucopolysaccharidosis (MPS) disorders are ultra-rare lysosomal storage disorders associated with progressive accumulation of glycosaminoglycans (GAGs) in cells and tissues throughout the body. Clinical manifestations and progression rates vary widely across and within the different types of MPS. Neurological symptoms occur frequently, and may result directly from brain damage caused by infiltration of GAGs, or develop secondary to somatic manifestations such as spinal cord compression, hydrocephalus, and peripheral nerve entrapment...
September 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29153844/treatment-of-brain-disease-in-the-mucopolysaccharidoses
#2
REVIEW
Maurizio Scarpa, Paul J Orchard, Angela Schulz, Patricia I Dickson, Mark E Haskins, Maria L Escolar, Roberto Giugliani
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. These disorders are characterized by their progressive nature and a variety of somatic manifestations and neurological symptoms. There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease...
October 16, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#3
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29122734/gene-editing-of-mps-i-human-fibroblasts-by-co-delivery-of-a-crispr-cas9-plasmid-and-a-donor-oligonucleotide-using-nanoemulsions-as-nonviral-carriers
#4
Roselena Silvestri Schuh, Talita Giacomet de Carvalho, Roberto Giugliani, Ursula Matte, Guilherme Baldo, Helder Ferreira Teixeira
Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by the deficiency of alpha-L-iduronidase (IDUA). This study shows the use of nanoemulsions co-complexed with the plasmid of CRISPR/Cas9 system and a donor oligonucleotide aiming at MPS I gene editing in vitro. Nanoemulsions composed of MCT, DOPE, DOTAP, DSPE-PEG, and water were prepared by high-pressure homogenization. The DNA was complexed by adsorption or encapsulation of preformed DNA/DOTAP complexes with nanoemulsions at +4/ -1 charge ratio...
November 6, 2017: European Journal of Pharmaceutics and Biopharmaceutics
https://www.readbyqxmd.com/read/29120458/precision-newborn-screening-for-lysosomal-disorders
#5
Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, Lea Mott, Dawn S Peck, Stephanie L Nett, Jason S Eckerman, Jean M Lacey, Coleman T Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo
PurposeThe implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.MethodsThe Kentucky Department for Public Health outsourced testing for mucopolysaccharidosis type I (MPS I) and Pompe disease, conditions recently added to the recommended uniform screening panel, plus Krabbe disease, which was added by legislative mandate...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29119347/n-glycan-structures-and-downstream-mannose-phosphorylation-of-plant-recombinant-human-alpha-l-iduronidase-toward-development-of-enzyme-replacement-therapy-for-mucopolysaccharidosis-i
#6
Owen M Pierce, Grant R McNair, Xu He, Hiroyuki Kajiura, Kazuhito Fujiyama, Allison R Kermode
Arabidopsis N-glycan processing mutants provide the basis for tailoring recombinant enzymes for use as replacement therapeutics to treat lysosomal storage diseases, including N-glycan mannose phosphorylation to ensure lysosomal trafficking and efficacy. Functional recombinant human alpha-L-iduronidase (IDUA; EC 3.2.1.76) enzymes were generated in seeds of the Arabidopsis thaliana complex-glycan-deficient (cgl) C5 background, which is deficient in the activity of N-acetylglucosaminyl transferase I, and in seeds of the Arabidopsis gm1 mutant, which lacks Golgi α-mannosidase I (GM1) activity...
November 8, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/29111092/quantitative-neuroimaging-in-mucopolysaccharidoses-clinical-trials
#7
REVIEW
Igor Nestrasil, Leonardo Vedolin
The mucopolysaccharidosis (MPS) disorders are rare lysosomal storage disorders caused by mutations in lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting intracellular accumulation of GAGs leads to widespread tissue and organ dysfunction. In addition to somatic signs and symptoms, patients with MPS can present with neurological manifestations such as cognitive decline, behavioral problems (e.g. hyperactivity and aggressiveness), sleep disturbances, and/or epilepsy. These are associated with significant abnormalities of the central nervous system (CNS), including white and gray matter lesions, brain atrophy, ventriculomegaly, and spinal cord compression...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29073295/-early-enzyme-replacement-therapy-hope-for-patients-with-mucopolysaccharidosis-type-ii
#8
Karolina Orchel-Szastak, Katarzyna Ptak, Katarzyna Hrnciar, Bożena Pilch, Urszula Kania, Mirosław Bik-Multanowski
We present an unexpected outcome of 10 years of enzyme replacement therapy of a boy with mucopolysaccharidosis type II. Due to a positive familiar history (severe disease course in a sibling) the diagnosis was established in the first month of life. Treatment with Elaprase was introduced two months later. Since then normal physical and mental development is observed. The patient presents only relatively large head circumference (+2.1 SD) and slight decrease of joints mobility. In our opinion, early introduction of enzyme replecement therapy could attenuate the disease course...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29064732/differential-prevalence-of-antibodies-against-adeno-associated-virus-in-healthy-children-and-patients-with-mucopolysaccharidosis-iii-perspective-for-aav-mediated-gene-therapy
#9
Haiyan Fu, Aaron S Meadows, Ricardo J Pineda, Krista L Kunkler, Kristen V Truxal, Kim L McBride, Kevin M Flanigan, Douglas M McCarty
Recombinant adeno-associated virus (AAV) vectors are promising gene therapy tools. However, pre-existing antibodies (Abs) to many useful AAV serotypes pose a critical challenge for the translation of gene therapies. As part of AAV gene therapy program for treating mucopolysaccharidosis (MPS) III patients, the seroprevalence profiles of AAV1-9 and rh74 were investigated in MPS IIIA/IIIB patients and in healthy children. Using enzyme-linked immunosorbent assay for αAAV-IgG, significantly higher seroprevalence was observed for AAV1 and AAVrh74 in 2- to 7-year-old MPS III patients than in healthy controls...
October 24, 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/29061114/mortality-in-patients-with-sanfilippo-syndrome
#10
Christine Lavery, Chris J Hendriksz, Simon A Jones
BACKGROUND: Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a different enzyme participating in metabolism of heparan sulphate. The resultant accumulation of this substrate in bodily tissues causes various malfunctions of organs, ultimately leading to premature death. Eighty-four, 24 and 5 death certificates of patients with Sanfilippo syndrome types A, B and C, respectively, were obtained from the Society of Mucopolysaccharide Diseases (UK) to better understand the natural course of these conditions, covering the years 1977-2007...
October 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29054894/mucopolysaccharidosis-type-iva-morquio-a-a-close-differential-diagnosis-of-spondylo-epiphyseal-dysplasia
#11
Sugata Narayan Biswas, Shinjan Patra, Partha Pratim Chakraborty, Himanshu Barman
Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding with normal intelligence and can be misdiagnosed as primary skeletal disorders in clinical practice. The absence of corneal clouding with normal urinary glycosaminoglycans (GAGs) level in a proportion of patients with MPS IVA makes the correct diagnosis even more challenging for physicians...
October 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29046964/differences-in-maxillomandibular-morphology-among-patients-with-mucopolysaccharidoses-i-ii-iii-iv-and-vi-a-retrospective-mri-study
#12
Till Koehne, Anja Köhn, Reinhard E Friedrich, Uwe Kordes, Thorsten Schinke, Nicole Muschol, Bärbel Kahl-Nieke
OBJECTIVE: The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II, III, IVa and VI and to evaluate the craniofacial effect of hematopoietic stem cell transplantation (HCST) in MPS I. MATERIALS AND METHODS: One hundred head magnetic resonance images were retrospectively analyzed from 41 MPS and 27 control individuals. The width, height and length of the maxilla and mandible were plotted against age and the means of controls, MPS I, MPS II and MPS III were statistically compared...
October 18, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/29035183/atypical-presentation-of-acute-angle-closure-glaucoma-in-maroteaux-lamy-mucopolysaccharidosis-with-patent-prophylactic-laser-peripheral-iridotomy-a-case-report
#13
Malini Veerappan, Garrick Chak, Christine Shieh, Pratap Challa
INTRODUCTION: Maroteaux-Lamy syndrome (MLS) is a rare progressive condition characterized by inflammation and scarring of multiple organs. Ocular complications caused by anterior segment abnormalities commonly cause visual impairment in MLS. Angle-closure glaucoma is one such complication, but there are limited data on presentation, workup, and management of this condition. CASE PRESENTATION: This case report describes an atypical presentation of acute angle-closure glaucoma in a patient with MLS despite a prior prophylactic laser peripheral iridotomy-which would typically prevent an acute angle-closure attack-that was patent and intact at the time of angle closure...
2017: Permanente Journal
https://www.readbyqxmd.com/read/29023963/prediction-of-phenotypic-severity-in-mucopolysaccharidosis-type-iiia
#14
Suzan J G Knottnerus, Stephanie C M Nijmeijer, Lodewijk IJlst, Heleen Te Brinke, Naomi van Vlies, Frits A Wijburg
OBJECTIVE: Mucopolysaccharidosis IIIA or Sanfilippo disease type A is a progressive neurodegenerative disorder presenting in early childhood, caused by an inherited deficiency of the lysosomal hydrolase sulfamidase. New missense mutations, for which genotype-phenotype correlations are currently unknown, are frequently reported, hampering early prediction of phenotypic severity and efficacy assessment of new disease-modifying treatments. We aimed to design a method to determine phenotypic severity early in the disease course...
October 10, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28988413/oral-health-of-children-and-adolescents-with-mucopolysaccharidosis-and-mother-s-sense-of-coherence
#15
Natália Cristina Ruy Carneiro, Tahyná Duda Deps, Esdras Campos França, Eugênia Ribeiro Valadares, Isabela Almeida Pordeus, Ana Cristina Borges-Oliveira
AIMS: The purpose of this study is assess the association between mother's Sense of Coherence (SOC) and the oral health status of children with and without mucopolysaccharidosis (MPS). METHODS: A cross-sectional study was carried out with 29 children/adolescents with MPS and 29 children/adolescents without MPS, and their mothers in Brazil. Mothers completed the Antonovsky's SOC instrument (SOC-13) and their children's oral cavity had been examined for developmental defects of enamel (DDE), occlusal problems, dental caries (DMFT/dmft) and oral hygiene...
October 8, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/28983456/enzyme-replacement-therapy-attenuates-disease-progression-in-two-japanese-siblings-with-mucopolysaccharidosis-type-vi-10-year-follow-up
#16
Mahoko Furujo, Motomichi Kosuga, Torayuki Okuyama
Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulphatase (ASB) deficiency and the consequent accumulation of glycosaminoglycan. A previous case report highlighted that 3 years of ERT with recombinant human ASB (galsulfase) was well tolerated and effective in two Japanese siblings with MPS VI who initiated ERT at 5...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28983455/long-term-cognitive-and-somatic-outcomes-of-enzyme-replacement-therapy-in-untransplanted-hurler-syndrome
#17
Julie B Eisengart, Jeanine Jarnes, Alia Ahmed, Igor Nestrasil, Richard Ziegler, Kathleen Delaney, Elsa Shapiro, Chester Whitley
Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS I is critical to stem progressive, irreversible disease manifestations. Enzyme replacement therapy (ERT) is an approved treatment for all MPS I phenotypes, but because the severe form (MPS IH, Hurler syndrome) involves rapid neurocognitive decline, the impermeable blood-brain-barrier is considered an obstacle for ERT. Instead, hematopoietic cell transplantation (HCT) has long been recommended, as it is believed to be the only therapy that arrests neurocognitive decline...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28982054/urinary-metabolic-phenotyping-of-mucopolysaccharidosis-type-i-combining-untargeted-and-targeted-strategies-with-data-modeling
#18
Abdellah Tebani, Isabelle Schmitz-Afonso, Lenaig Abily-Donval, Bénédicte Héron, Monique Piraud, Jérôme Ausseil, Anais Brassier, Pascale De Lonlay, Farid Zerimech, Frédéric M Vaz, Bruno J Gonzalez, Stephane Marret, Carlos Afonso, Soumeya Bekri
BACKGROUND: Application of metabolic phenotyping could expand the pathophysiological knowledge of mucopolysaccharidoses (MPS) and may reveal the comprehensive metabolic impairments in MPS. However, few studies applied this approach to MPS. METHODS: We applied targeted and untargeted metabolic profiling in urine samples obtained from a French cohort comprising 19 MPS I and 15 MPS I treated patients along with 66 controls. For that purpose, we used ultra-high-performance liquid chromatography combined with ion mobility and high-resolution mass spectrometry following a protocol designed for large-scale metabolomics studies regarding robustness and reproducibility...
October 2, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28974237/clinical-outcomes-in-idursulfase-treated-patients-with-mucopolysaccharidosis-type-ii-3-year-data-from-the-hunter-outcome-survey-hos
#19
Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck
BACKGROUND: Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy (ERT) with recombinant I2S. Clinical outcomes following ≥3 years of ERT with idursulfase were investigated in a broad population of patients with MPS II enrolled in the Hunter Outcome Survey (HOS). METHODS: As of January 2016, 639 patients (excluding female patients, individuals who had received a bone marrow transplant and those enrolled in the phase 1/2 [TKT018] or phase 2/3 [TKT024] clinical trial) followed prospectively in the registry had received idursulfase for ≥6 months...
October 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28973713/clinical-features-of-mexican-patients-with-mucopolysaccharidosis-type-i
#20
A Alonzo-Rojo, J E García-Ortiz, M Ortiz-Aranda, M P Gallegos-Arreola, L E Figuera-Villanueva
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe (Hurler syndrome), intermediate (Hurler-Scheie syndrome), and mild (Scheie syndrome) - none of which is determined by residual enzyme activity...
September 21, 2017: Genetics and Molecular Research: GMR
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