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https://www.readbyqxmd.com/read/29326871/quantification-of-the-enzyme-activities-of-iduronate-2-sulfatase-n-acetylgalactosamine-6-sulfatase-and-n-acetylgalactosamine-4-sulfatase-using-liquid-chromatography-tandem-mass-spectrometry
#1
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Akiya Tatsumi
Mucopolysaccharidosis (MPS) is a genetic disorder characterized by the accumulation of glycosaminoglycans in the body. Of the multiple MPS disease subtypes, several are caused by defects in sulfatases. Specifically, a defect in iduronate-2-sulfatase (ID2S) leads to MPS II, whereas N-acetylgalactosamine-6-sulfatase (GALN) and N-acetylgalactosamine-4-sulfatase (ARSB) defects relate to MPS IVA and MPS VI, respectively. A previous study reported a combined assay for these three disorders in a 96-well plate using a liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based technique (Kumar et al...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29324825/early-and-later-phases-satellite-cell-responses-and-myonuclear-content-with-resistance-training-in-young-men
#2
Felipe Damas, Cleiton A Libardi, Carlos Ugrinowitsch, Felipe C Vechin, Manoel E Lixandrão, Tim Snijders, Joshua P Nederveen, Aline V Bacurau, Patricia Brum, Valmor Tricoli, Hamilton Roschel, Gianni Parise, Stuart M Phillips
Satellite cells (SC) are associated with skeletal muscle remodelling after muscle damage and/or extensive hypertrophy resulting from resistance training (RT). We recently reported that early increases in muscle protein synthesis (MPS) during RT appear to be directed toward muscle damage repair, but MPS contributes to hypertrophy with progressive muscle damage attenuation. However, modulations in acute-chronic SC content with RT during the initial (1st-wk: high damage), early (3rd-wk: attenuated damage), and later (10th-wk: no damage) stages is not well characterized...
2018: PloS One
https://www.readbyqxmd.com/read/29314214/oral-and-craniofacial-manifestations-in-a-hunter-syndrome-patient-with-hematopoietic-stem-cell-transplantation-a-case-report
#3
Rafaela de Oliveira Torres, Andréa Vaz Braga Pintor, Fábio Ribeiro Guedes, Liana Bastos Freitas-Fernandes, Anneliese Lopes Barth, Dafne Dain Gandelman Horovitz, Ivete Pomarico Ribeiro de Souza
We described herein the oral and craniofacial features of a 7-year-old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HSCT) at 70 days of age. The main oral clinical findings were the following: macroglossia, posterior cross-bite, crowding, pointed cuspid teeth, delayed tooth eruption, retained primary teeth, and enamel hypoplasia. The image examination showed: retention eruption, posterior primary teeth with short roots, absence of some permanent teeth, and stretching of the stylohyoid processes bilaterally...
January 4, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29313030/poly-2-propylacrylic-acid-poly-lactic-co-glycolic-acid-blend-microparticles-as-a-targeted-antigen-delivery-system-to-direct-either-cd4-or-cd8-t-cell-activation
#4
Lirong Yang, Evelyn Bracho-Sanchez, Lawrence P Fernando, Jamal S Lewis, Matthew R Carstens, Craig L Duvall, Benjamin G Keselowsky
Poly(lactic-co-glycolic acid) (PLGA) based microparticles (MPs) are widely investigated for their ability to load a range of molecules with high efficiency, including antigenic proteins, and release them in a controlled manner. Micron-sized PLGA MPs are readily phagocytosed by antigen presenting cells, and localized to endosomes. Due to low pH and digestive enzymes, encapsulated protein cargo is largely degraded and processed in endosomes for MHC-II loading and presentation to CD4+ T cells, with very little antigen delivered into the cytosol, limiting MHC-I antigenic loading and presentation to CD8+ T cells...
June 2017: Bioengineering & Translational Medicine
https://www.readbyqxmd.com/read/29300729/novel-magnetic-multicore-nanoparticles-designed-for-mpi-and-other-biomedical-applications-from-synthesis-to-first-in-vivo-studies
#5
Harald Kratz, Matthias Taupitz, Angela Ariza de Schellenberger, Olaf Kosch, Dietmar Eberbeck, Susanne Wagner, Lutz Trahms, Bernd Hamm, Jörg Schnorr
Synthesis of novel magnetic multicore particles (MCP) in the nano range, involves alkaline precipitation of iron(II) chloride in the presence of atmospheric oxygen. This step yields green rust, which is oxidized to obtain magnetic nanoparticles, which probably consist of a magnetite/maghemite mixed-phase. Final growth and annealing at 90°C in the presence of a large excess of carboxymethyl dextran gives MCP very promising magnetic properties for magnetic particle imaging (MPI), an emerging medical imaging modality, and magnetic resonance imaging (MRI)...
2018: PloS One
https://www.readbyqxmd.com/read/29289480/chaperone-effect-of-sulfated-disaccharide-from-heparin-on-mutant-iduronate-2-sulfatase-in-mucopolysaccharidosis-type-ii
#6
Hiroo Hoshina, Yohta Shimada, Takashi Higuchi, Hiroshi Kobayashi, Hiroyuki Ida, Toya Ohashi
Small molecules called pharmacological chaperones have been shown to improve the stability, intracellular localization, and function of mutated enzymes in several lysosomal storage diseases, and proposed as promising therapeutic agents for them. However, a chaperone compound for mucopolysaccharidosis type II (MPS II), which is an X-linked lysosomal storage disorder characterized by a deficiency of iduronate-2-sulfatase (IDS) and the accumulation of glycosaminoglycans (GAGs), has still not been developed. Here we focused on the Δ-unsaturated 2-sulfouronic acid-N-sulfoglucosamine (D2S0), which is a sulfated disaccharide derived from heparin, as a candidate compound for a pharmacological chaperone for MPS II, and analyzed the chaperone effect of the saccharide on IDS by using recombinant protein and cells expressing mutated enzyme...
December 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29210605/cognitive-and-behaviour-profiles-of-children-with-mucopolysaccharidosis-type-ii
#7
Louise Crowe, Joy Yaplito-Lee, Vicki Anderson, Heidi Peters
Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome is a rare X-linked condition, due to a defect in a lysosomal enzyme involved in the breakdown of glycosaminoglycans. It is a progressive condition with worsening over time; however, symptom severity and progression rates vary. Normal intellectual function has been reported in males with mild MPS II but few studies are available that provide comprehensive cognitive profiles. Enzyme replacement therapy (ERT) can stabilize physical symptoms and has become standard treatment...
September 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/29210515/intrafamilial-variability-in-the-clinical-manifestations-of-mucopolysaccharidosis-type-ii-data-from-the-hunter-outcome-survey-hos
#8
Can Ficicioglu, Roberto Giugliani, Paul Harmatz, Nancy J Mendelsohn, Virginie Jego, Rossella Parini
Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data from patients enrolled in the Hunter Outcome Survey (HOS) were used to investigate intrafamilial variability in male siblings with MPS II. As of July 2015, data were available for 78 patients aged ≥5 years at last visit who had at least one affected sibling (39 sibling pairs). These patients were followed prospectively (i.e., they were alive at enrollment in HOS)...
December 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29196752/combined-genetic-approaches-yield-a-48-diagnostic-rate-in-a-large-cohort-of-french-hearing-impaired-patients
#9
D Baux, C Vaché, C Blanchet, M Willems, C Baudoin, M Moclyn, V Faugère, R Touraine, B Isidor, D Dupin-Deguine, M Nizon, M Vincent, S Mercier, C Calais, G García-García, Z Azher, L Lambert, Y Perdomo-Trujillo, F Giuliano, M Claustres, M Koenig, M Mondain, A F Roux
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patients. We present the results of a two-year period of molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS of 74 genes, and (iii) additional approaches including Copy Number Variations, in silico analyses, minigene studies coupled when appropriate with complete gene sequencing, and a specific assay for STRC...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29176667/mesenchymal-stem-cells-derived-exosomes-and-microparticles-protect-cartilage-and-bone-from-degradation-in-osteoarthritis
#10
Stella Cosenza, Maxime Ruiz, Karine Toupet, Christian Jorgensen, Danièle Noël
Mesenchymal stem or stromal cells (MSCs) exert chondroprotective effects in preclinical models of osteoarthritis (OA). Most of their therapeutic effects are mediated via soluble mediators, which can be conveyed within extracellular vesicles (EVs). The objective of the study was to compare the respective role of exosomes (Exos) or microvesicles/microparticles (MPs) in OA. MPs and Exos were isolated from bone marrow murine BM-MSCs through differential centrifugation. Effect of MPs or Exos was evaluated on OA-like murine chondrocytes and chondroprotection was quantified by RT-qPCR...
November 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29170079/practical-management-of-behavioral-problems-in-mucopolysaccharidoses-disorders
#11
REVIEW
Maria L Escolar, Simon A Jones, Elsa G Shapiro, Dafne D G Horovitz, Christina Lampe, Hernán Amartino
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. Excessive GAG storage can lead to a variety of somatic manifestations as well as primary and secondary neurological symptoms. Behavioral problems (like hyperactivity, attention difficulties, and severe frustration) and sleeping problems are typical primary neurological symptoms of MPS caused by GAG accumulation in neurons, and are frequently observed in patients with MPS I, II, III, and VII...
September 27, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29168930/cyclodextrin-encapsulation-of-daidzein-and-genistein-by-grinding-implication-on-the-glycosaminoglycan-accumulation-in-mucopolysaccharidosys-type-ii-and-iii-fibroblasts
#12
Barbara Fumić, Jasna Jablan, Dominik Cinčić, Marijana Zovko Končić, Mario Jug
This work was aimed to investigate the potential effect of cyclodextrin encapsulation on intrinsic ability of daidzein (DAD) and genistein (GEN) to inhibit the glycosaminoglycan (GAG) synthesis in fibroblasts originating from patients with mucopolysaccharidoes (MPS), type II and III. DAD or GEN encapsulation with either 2-hydroxypropyl-β-cyclodextrin or sulphobuthylether-β-cyclodextrin were achieved by neat grinding and characterised by thermal analysis, X-ray powder diffraction, scanning electron microscopy and solubility testing, confirming the complexes formation with increased solubility with respect to starting compounds...
November 23, 2017: Journal of Microencapsulation
https://www.readbyqxmd.com/read/29158997/presentation-and-treatments-for-mucopolysaccharidosis-type-ii-mps-ii-hunter-syndrome
#13
Molly Stapleton, Francyne Kubaski, Robert W Mason, Hiromasa Yabe, Yasuyuki Suzuki, Kenji E Orii, Tadao Orii, Shunji Tomatsu
Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan sulfate (HS). MPS II is both multi-systemic and progressive. Phenotypes are classified as either attenuated or severe (based on absence or presence of central nervous system impairment, respectively). Areas covered: Current treatments available are intravenous enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), anti-inflammatory treatment, and palliative care with symptomatic surgeries...
2017: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/29153844/treatment-of-brain-disease-in-the-mucopolysaccharidoses
#14
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/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#15
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
#16
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
#17
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
#18
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/29050817/zirconia-surface-modification-by-a-novel-zirconia-bonding-system-and-its-adhesion-mechanism
#19
Takahiro Murakami, Shinji Takemoto, Norihiro Nishiyama, Masahiro Aida
OBJECTIVE: Bonding to zirconia has been of great interest over the last 10-15 years. The aim of this study was to develop a zirconia bonding system and clarify its adhesion mechanism. METHODS: A zirconia primer was prepared using tetra-n-propoxy zirconium (TPZr) and water. A silane primer was also prepared using γ-methacryloyloxypropyltrimethoxysilane (γ-MPS) and hydrochloric acid. After the zirconia primer was applied to the oxidized zirconia surface, the silane primer was applied to the ZrO2-functionalized layer and the resin cement was applied to the silane-modified layer...
October 16, 2017: Dental Materials: Official Publication of the Academy of Dental Materials
https://www.readbyqxmd.com/read/29046964/differences-in-maxillomandibular-morphology-among-patients-with-mucopolysaccharidoses-i-ii-iii-iv-and-vi-a-retrospective-mri-study
#20
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
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