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https://www.readbyqxmd.com/read/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#1
REVIEW
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. Neurological symptoms have a substantial impact on the quality of life of MPS patients and their families...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29118243/widespread-co-occurrence-of-two-distantly-related-mitochondrial-genomes-in-individuals-of-the-leaf-beetle-gonioctena-intermedia
#2
Chedly Kastally, Patrick Mardulyn
Mitochondrial genome heteroplasmy-the presence of more than one genomic variant in individuals-is considered only occasional in animals, and most often involves molecules differing only by a few recent mutations. Thanks to new sequencing technologies, a large number of DNA fragments from a single individual can now be sequenced and visualized separately, allowing new insights into intra-individual mitochondrial genome variation. Here, we report evidence from both (i) massive parallel sequencing (MPS) of genomic extracts and (ii) Sanger sequencing of PCR products, for the widespread co-occurrence of two distantly related (greater than 1% nucleotide divergence, excluding the control region) mitochondrial genomes in individuals of a natural population of the leaf beetle Gonioctena intermedia Sanger sequencing of PCR products using universal primers previously failed to identify heteroplasmy in this population...
November 2017: Biology Letters
https://www.readbyqxmd.com/read/29074036/developmental-and-behavioral-aspects-of-mucopolysaccharidoses-with-brain-manifestations-neurological-signs-and-symptoms
#3
REVIEW
Elsa G Shapiro, Simon A Jones, Maria L Escolar
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders, caused by mutations in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). The resulting accumulation of GAGs in the body leads to widespread tissue and organ dysfunction. The spectrum, severity, and progression rate of clinical manifestations varies widely between and within the different MPS types. In addition to somatic signs and symptoms, which vary between the different MPS disorders, patients with MPS I, II, III, and VII present with significant neurological signs and symptoms, including impaired cognitive abilities, difficulties in language and speech, and/or behavioral and sleep problems...
August 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29065735/phase-i-and-ii-clinical-trials-for-the-mucopolysaccharidoses
#4
Fabiano Poswar, Guilherme Baldo, Roberto Giugliani
The mucopolysaccharidoses are lysosomal diseases characterized by deficient activity of one of the enzymes that degrades glycosaminoglycans. Treatment options are limited; therefore, new treatments are under investigation. Areas covered: We review the medicinal products for the treatment of mucopolysaccharidoses that are currently being investigated in phase I and phase II clinical trials. Expert opinion: The number of alternatives to treat MPS diseases increased dramatically in an attempt to provide therapy options for orphan MPS diseases and to address the unmet needs of the MPS that already have a treatment available...
October 31, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/29046964/differences-in-maxillomandibular-morphology-among-patients-with-mucopolysaccharidoses-i-ii-iii-iv-and-vi-a-retrospective-mri-study
#5
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/29030343/carbohydrate-restriction-with-postmeal-walking-effectively-mitigates-postprandial-hyperglycemia-and-improves-endothelial-function-in-type-2-diabetes
#6
Monique Emily Francois, Etienne Myette-Cote, Tyler Daniel Bammert, Cody Durrer, Helena Neudorf, Christopher A DeSouza, Jonathan Peter Little
Postprandial hyperglycemia has deleterious effects on endothelial function. Restricting carbohydrate intake and postmeal walking have each been shown to reduce postprandial hyperglycemia but their combination and subsequent effects on endothelial function have not been investigated. Here, we sought to examine the effect of blunting postprandial hyperglycemia by following a low-carbohydrate diet, with or without postmeal walking exercise, on markers of vascular health in type 2 diabetes (T2D). In a randomized crossover design, individuals with T2D (N=11) completed three four-day controlled diet interventions consisting of i) low-carbohydrate diet alone (LC), ii) low-carbohydrate diet with 15-minute postmeal walks (LC+Ex), and iii) Low-fat control diet (CON)...
October 13, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28944140/mucopolysaccharidosis-type-i-ii-and-vi-and-response-to-enzyme-replacement-therapy-results-from-a-single-center-case-series-study
#7
José Francisco da Silva Franco, Regina El Dib, Arnav Agarwal, Diogo Soares, Noala Vicensoto Moreira Milhan, Lilian Maria José Albano, Chong Ae Kim
Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha-L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and multi-systemic clinical manifestations. Enzyme replacement therapy (ERT) appears to be reasonably well tolerated. The aim of this study was to examine clinical and diagnostic findings of a series of pediatric and adult MPS patients, and assess the safety and efficacy of ERT in children and adults with MPS type I, II and VI...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28934395/abnormal-polyamine-metabolism-is-unique-to-the-neuropathic-forms-of-mps-potential-for-biomarker-development-and-insight-into-pathogenesis
#8
Christian Hinderer, Nathan Katz, Jean-Pierre Louboutin, Peter Bell, Jakub Tolar, Paul J Orchard, Troy C Lund, Mohamad Nayal, Liwei Weng, Clementina Mesaros, Carolina F M de Souza, Amauri Dalla Corte, Roberto Giugliani, James M Wilson
The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurological symptoms. Development of treatments for the neurological manifestations of MPS has been hindered by the lack of objective measures of central nervous system disease burden. Identification of biomarkers for central nervous system disease in MPS patients would facilitate the evaluation of new agents in clinical trials. High throughput metabolite screening of cerebrospinal fluid (CSF) samples from a canine model of MPS I revealed a marked elevation of the polyamine, spermine, in affected animals, and gene therapy studies demonstrated that reduction of CSF spermine reflects correction of brain lesions in these animals...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28933729/structure-and-catalysis-of-fe-iii-and-cu-ii-microperoxidase-11-interacting-with-the-positively-charged-interfaces-of-lipids
#9
Tatiana Prieto, Vinicius Santana, Adrianne M M Britto, Juliana C Araujo-Chaves, Otaciro R Nascimento, Iseli L Nantes-Cardoso
Numerous applications have been described for microperoxidases (MPs) such as in photoreceptors, sensing, drugs, and hydrogen evolution. The last application was obtained by replacing Fe(III), the native central metal, by cobalt ion and inspired part of the present study. Here, the Fe(III) of MP-11 was replaced by Cu(II) that is also a stable redox state in aerated medium, and the structure and activity of both MPs were modulated by the interaction with the positively charged interfaces of lipids. Comparative spectroscopic characterization of Fe(III) and Cu(II)MP-11 in the studied media demonstrated the presence of high and low spin species with axial distortion...
July 26, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28932756/non-clinical-safety-and-efficacy-of-an-aav2-8-vector-administered-intravenously-for-treatment-of-mucopolysaccharidosis-type-vi
#10
Rita Ferla, Marialuisa Alliegro, Jean-Brice Marteau, Margherita Dell'Anno, Edoardo Nusco, Severine Pouillot, Stefania Galimberti, Maria Grazia Valsecchi, Vincent Zuliani, Alberto Auricchio
In vivo gene therapy with adeno-associated viral (AAV) vectors is safe and effective in humans. We recently demonstrated that AAV8-mediated liver gene transfer is effective in animal models of mucopolysaccharidosis type VI (MPS VI), a rare lysosomal storage disease that is caused by arylsulfatase B (ARSB) deficiency. In preparing for a first-in-human trial, we performed non-clinical studies to assess the safety of intravenous administrations of AAV2/8.TBG.hARSB produced under good manufacturing practice-like conditions...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28928453/molecular-characterization-of-emaraviruses-associated-with-pigeonpea-sterility-mosaic-disease
#11
Surender Kumar, B L Subbarao, Vipin Hallan
Sterility Mosaic Disease (SMD) of pigeonpea (Cajanus cajan (L.) Millspaugh) is a complex disease due to various factors including the presence of a mixed infection. Comparison of dsRNA profile and small RNA (sRNA) deep sequencing analysis of samples from three locations revealed the presence of Pigeonpea sterility mosaic virus-I and II (PPSMV-I and II) from Chevella and only PPSMV-II from Bengaluru and Coimbatore. PPSMV-I genome consisted of four while PPSMV-II encompassed six RNAs. The two viruses have modest sequence homology between their corresponding RNA 1-4 encoding RdRp, glycoprotein precursor, nucleocapsid and movement proteins and the corresponding orthologs of other emaraviruses...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28921412/how-close-are-we-to-therapies-for-sanfilippo-disease
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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...
November 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
#19
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
#20
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)...
October 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
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