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https://www.readbyqxmd.com/read/28101780/update-of-the-spectrum-of-mucopolysaccharidoses-type-iii-in-tunisia-identification-of-three-novel-mutations-and-in-silico-structural-analysis-of-the-missense-mutations
#1
Souad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, Abdehedi Miled, Dalila Saidane Mosbahi, Sandra Alves
BACKGROUND: Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal storage diseases, caused by mutations in genes that code for enzymes involved in the lysosomal degradation of heparan sulphate: heparan sulfate sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS). METHODS: In this study, we have performed the molecular analysis of the SGSH, NAGLU and HGSNAT genes in 10 patients from 6 different MPS III Tunisian families...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28098417/delivery-of-anesthesia-for-children-with-mucopolysaccharidosis-type-iii-sanfilippo-syndrome-a-review-of-86-anesthetics
#2
Marc A Cohen, Grant M Stuart
BACKGROUND: Sanfilippo syndrome (MPS III) is rare, with 97 cases in the United Kingdom between 1988 and 1998. Mucopolysaccharide infiltration of tissues in mucopolysaccharidosis (MPS) causes multi-systemic pathology including difficult airways and cardiac disease. Published anesthesia case reviews of Sanfilippo syndrome have included limited numbers of patients to date. AIM: To identify the perioperative management and complications of anesthesia in children with mucopolysaccharidosis Type III at Great Ormond Street Hospital...
January 18, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28088454/alpha-l-iduronidase-and-arylsulfatase-b-in-dried-blood-spots-on-filter-paper-biochemical-parameters-and-time-stability
#3
Ana Carolina Breier, Jaqueline Cé, Jamila Mezzalira, Vanessa V Daitx, Vitoria C Moraes, Mariana P S Goldim, Janice C Coelho
BACKGROUND: The goal of this study was to assess the biochemical parameters of the enzymes α-l-iduronidase (IDUA) and arylsulfatase B (ASB), which are deficient in mucopolysaccharidosis (MPS) I and VI, respectively, in dried blood spot (DBS) samples impregnated on filter paper. METHODS AND RESULTS: The optimal pH, Km, and Vmax of IDUA and ASB in DBS are hereby presented. After these analyses, the reference values for the activities of these enzymes in DBS with cutoff of 3...
January 11, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28081172/influence-of-corneal-opacity-on-intraocular-pressure-assessment-in-patients-with-lysosomal-storage-diseases
#4
Joanna Wasielica-Poslednik, Giuseppe Politino, Irene Schmidtmann, Katrin Lorenz, Katharina Bell, Norbert Pfeiffer, Susanne Pitz
AIMS: To investigate an influence of mucopolysaccharidosis (MPS)- and Morbus Fabry-associated corneal opacities on intraocular pressure (IOP) measurements and to evaluate the concordance of the different tonometry methods. METHODS: 25 MPS patients with or without corneal clouding, 25 Fabry patients with cornea verticillata ≥ grade 2 and 25 healthy age matched controls were prospectively included into this study. Outcome measures: Goldmann applanation tonometry (GAT); palpatory assessment of IOP; Goldmann-correlated intraocular pressure (IOPg), corneal-compensated intraocular pressure (IOPcc), corneal resistance factor (CRF) and corneal hysteresis (CH) assessed by Ocular Response Analyzer (ORA); central corneal thickness (CCT) and density assessed with Pentacam...
2017: PloS One
https://www.readbyqxmd.com/read/28077431/enantiomers-recognition-of-propranolol-based-on-organic-inorganic-hybrid-open-tubular-mips-cec-column-using-3-trimethoxysilyl-propyl-methacrylate-as-a-cross-linking-monomer
#5
Guo-Ning Chen, Ning Li, Tian Luo, Yu-Ming Dong
In this study, 3-(trimethoxysilyl)propyl methacrylate (γ-MPS), a bifunctional group compound, was used as a single cross-linking agent to prepare molecular imprinted inorganic-organic hybrid polymers by in situ polymerization for open-tubular capillary electro chromatography (CEC) column. The optimal preparation conditions were: the ratio between template molecule and functional monomer was 1:4; the volume proportion of porogen toluene and methanol was 1:1 and the volume of cross-linking agent γ-MPS was 69 μL...
January 10, 2017: Journal of Chromatographic Science
https://www.readbyqxmd.com/read/28063865/evaluation-of-a-mastery-learning-intervention-on-hospitalists-code-status-discussion-skills
#6
Rashmi K Sharma, Eytan Szmuilowicz, Adeboye Ogunseitan, Sasha F Jones, Jessica A Montalvo, Kevin J O'Leary, Diane B Wayne
CONTEXT: Although code status discussions (CSD) occur frequently in the hospital setting, discussions often lack content necessary for informed decision making. Simulation-based mastery learning (SBML) has been used to improve clinical skills among resident physicians and may provide a novel way to improve hospitalists' CSD skills. OBJECTIVES: The objective of this pilot randomized controlled trial was to develop and evaluate a CSD SBML intervention for hospitalists...
January 4, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28054207/mortality-after-hematopoietic-stem-cell-transplantation-for-severe-mucopolysaccharidosis-type-i-the-30-year-university-of-minnesota-experience
#7
Nathan J Rodgers, Alexander M Kaizer, Weston P Miller, Kyle D Rudser, Paul J Orchard, Elizabeth A Braunlin
BACKGROUND AND AIM: Mucopolysaccharidosis IH (MPS IH, Hurler syndrome) naturally leads to death within the first decade of life, primarily from cardiac and pulmonary causes. To determine how hematopoietic stem cell transplantation (HSCT) has altered mortality, we analyzed our institution's 30-year experience of patients with MPS IH undergoing HSCT. METHODS: Using chart review and the National Death Index, we determined survival status of 134 patients (males = 69) with MPS IH transplanted between 9/16/1983 and 7/25/2013 on 12/31/2013...
January 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28053878/microparticle-subpopulations-are-potential-markers-of-disease-progression-and-vascular-dysfunction-across-a-spectrum-of-connective-tissue-disease
#8
E M McCarthy, D Moreno-Martinez, F L Wilkinson, N J McHugh, I N Bruce, J D Pauling, M Y Alexander, B Parker
OBJECTIVE: Microparticles (MPs) are membrane-bound vesicles derived from vascular and intravascular cells such as endothelial cells (EMPs) and platelets (PMPs). We investigated EMP and PMP numbers across a spectrum of autoimmune rheumatic diseases (AIRDs) with the aim of comparing the levels of, and relationship between, EMPs and PMPs. METHODS: Patients with Systemic Lupus Erythematosus (SLE) (n = 24), Systemic Sclerosis (SSc) (n = 24), Primary Raynauds Phenomenon (RP) (n = 17) and "other CTD" (n = 15) (Primary Sjogrens Syndrome, UCTD or MCTD) as well as 15 healthy controls were recruited...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28050459/cardiovascular-abnormalities-in-egyptian-children-with-mucopolysaccharidoses
#9
Laila Selim, Nehal Abdelhamid, Emad Salama, Amera Elbadawy, Iman Gamaleldin, Mohamed Abdelmoneim, Abeer Selim
INTRODUCTION: The Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders. They are characterized by the progressive systemic deposition of Glycosaminoglycans (GAGs). GAGs accumulate in the myocardium and the cardiac valves. Enzyme Replacement Therapy (ERT) is available for MPS I, II, and VI. However, ERT does not appear to improve cardiac valve disease in patients with valve disease present at the start of ERT. AIM: To evaluate the cardiac involvement in Egyptian children with MPS...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28045254/homogeneous-catalysis-under-ultradilute-conditions-taml-naclo-oxidation-of-persistent-metaldehyde
#10
Liang L Tang, Matthew A DeNardo, Christopher J Schuler, Matthew R Mills, Chakicherla Gayathri, Roberto R Gil, Rakesh Kanda, Terrence J Collins
TAML activators enable homogeneous oxidation catalysis where the catalyst and substrate (S) are ultradilute (pM-low μM) and the oxidant is very dilute (high nM-low mM). Water contamination by exceptionally persistent micropollutants (MPs), including metaldehyde (Met), provides an ideal space for determining the characteristics and utilitarian limits of this ultradilute catalysis. The low MP concentrations decrease throughout catalysis with S oxidation (kII) and catalyst inactivation (ki) competing for the active catalyst...
January 18, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28040662/development-and-application-of-micro-polysaccharide-drug-carriers-incorporating-doxorubicin-and-superparamagnetic-iron-oxide-for-bimodality-treatment-of-hepatocellular-carcinoma
#11
Sung-Ling Tang, Meng-Yi Bai, Jyun-Yi Wang, Po-Da Hong
In this study, we demonstrated a novel polyelectrolyte microparticle, doxorubicin(DOX)-superparamagnetic iron oxide (SPIO)-chondroitin sulfate (CS)/chitosan (CHI)microparticles (MPs), as a drug delivery system for hepatic cancer treatment. We also investigated the properties of these microparticles through composition determination, formulation tests, in vitro study, and in vivo study. The results showed that our DOX-SPIO-CS/CHI MPs had an average diameter of 1.43±0.54μm and exhibited a spherical shape. The encapsulation efficiency of this drug carrier was approximately 31±8...
December 23, 2016: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28033261/elevated-thrombopoietin-and-platelet-indices-confirm-active-thrombopoiesis-but-fail-to-predict-clinical-severity-of-puumala-hantavirus-infection
#12
Outi Laine, Lotta Joutsi-Korhonen, Riitta Lassila, Heini Huhtala, Antti Vaheri, Satu Mäkelä, Jukka Mustonen
We evaluated the mechanisms of thrombocytopenia and procoagulant changes in relation with clinical variables in a cohort of patients with acute hantavirus disease.Blood samples of 33 prospectively recruited, consecutive, hospitalized patients with acute Puumala virus-induced hemorrhagic fever with renal syndrome (HFRS) were collected acutely and at the recovery visit (control). Serum thrombopoietin (TPO) and activity of plasma microparticles (MPs) from various cell sources were measured with enzyme-linked immunosorbent assay-based methods...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28018442/long-term-clinical-course-of-a-patient-with-mucopolysaccharidosis-type-iiib
#13
Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee
Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28013294/mutation-in-vps33a-affects-metabolism-of-glycosaminoglycans-a-new-type-of-mucopolysaccharidosis-with-severe-systemic-symptoms
#14
Hidehito Kondo, Nadezda Maksimova, Takanobu Otomo, Hisakazu Kato, Atsuko Imai, Yoshihiro Asano, Kaori Kobayashi, Satoshi Nojima, Akihiro Nakaya, Yusuke Hamada, Kaori Irahara, Elizaveta Gurinova, Aitalina Sukhomyasova, Anna Nogovicina, Mira Savvina, Tamotsu Yoshimori, Keiichi Ozono, Norio Sakai
Mucopolysaccharidoses (MPS) are a group of genetic deficiencies of lysosomal enzymes that catabolize glycosaminoglycans (GAG). Here we describe a novel MPS-like disease caused by a specific mutation in the VPS33A gene. We identified several Yakut patients showing typical manifestations of MPS: coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, mental retardation, and excess secretion of urinary GAG. However, these patients could not be diagnosed enzymatically as MPS. They showed extremely high levels of plasma heparan sulphate (HS, one of GAG); 60 times the normal reference range and 6 times that of MPS patients...
December 23, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28009236/increased-blood-cell-phosphatidylserine-exposure-and-circulating-microparticles-contribute-to-procoagulant-activity-after-carotid-artery-stenting
#15
Lu Zhao, Xiaoming Wu, Yu Si, Zhipeng Yao, Zengxiang Dong, Valerie A Novakovic, Li Guo, Dongxia Tong, He Chen, Yayan Bi, Junjie Kou, Huaizhang Shi, Ye Tian, Shaoshan Hu, Jin Zhou, Jialan Shi
OBJECTIVE Phosphatidylserine (PS) is a major component of the inner leaflet of membrane bilayers. During cell activation or apoptosis, PS is externalized to the outer membrane, providing an important physiological signal necessary for the release of the microparticles (MPs) that are generated through the budding of cellular membranes. MPs express PS and membrane antigens that reflect their cellular origin. PS exposure on the cell surface and the release of MPs provide binding sites for factor Xa and prothrombinase complexes that promote thrombin formation...
December 23, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27991992/neurological-outcomes-after-hematopoietic-stem-cell-transplantation-for-cerebral-x-linked-adrenoleukodystrophy-late-onset-metachromatic-leukodystrophy-and-hurler-syndrome
#16
Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim
Objective: To describe survival and neurological outcomes after HSCT for these disorders. Methods: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications...
December 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27979613/mucopolysaccharidosis-iva-and-glycosaminoglycans
#17
REVIEW
Shaukat Khan, Carlos J Alméciga-Díaz, Kazuki Sawamoto, William G Mackenzie, Mary C Theroux, Christian Pizarro, Robert W Mason, Tadao Orii, Shunji Tomatsu
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on cartilage and bone development, and successive systemic skeletal dysplasia...
November 29, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27941535/estimation-of-mycophenolic-acid-area-under-the-curve-with-limited-sampling-strategy-in-chinese-renal-transplant-recipients-receiving-enteric-coated-mycophenolate-sodium
#18
Yichen Jia, Bo Peng, Long Li, Jina Wang, Xuanchuan Wang, Guisheng Qi, Ruiming Rong, Liming Wang, Jianxin Qiu, Ming Xu, Tongyu Zhu
BACKGROUND: The enteric-coated mycophenolate sodium (EC-MPS), whose active constituent is mycophenolic acid (MPA), has been widely clinically used for organ transplant recipients. However, its absorption is delayed due to its special designed dosage form, which results in difficulty to monitor the exposure of the MPA in patients receiving the EC-MPS. This study was aimed at developing a relatively practical and precise model with limited sampling strategy (LSS) to estimate the 12-hour area under the concentration-time curve (AUC0-12 h) of MPA for Chinese renal transplant recipients receiving EC-MPS...
November 29, 2016: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/27916847/aortic-root-dilatation-in-mucopolysaccharidosis-i-vii
#19
Meena Bolourchi, Pierangelo Renella, Raymond Y Wang
The prevalence of aortic root dilatation (ARD) in mucopolysaccharidosis (MPS) is not well documented. We investigated aortic root measurements in 34 MPS patients at the Children's Hospital of Orange County (CHOC). The diagnosis, treatment status, age, gender, height, weight and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)) were extracted by retrospective chart review and echocardiographic measurements. Descriptive statistics, ANOVA, and paired post-hoc t-tests were used to summarize the aortic dimensions...
November 29, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27909712/myocardial-perfusion-spect-2015-in-germany-results-of-the-7th-survey
#20
Oliver Lindner, Wolfgang Burchert, Wolfgang Schäfer, Marcus Hacker
AIM: The working group Cardiovascular Nuclear Medicine of the German Society of Nuclear Medicine presents the results of the 7th survey of myocardial perfusion SPECT (MPS) of the reporting year 2015. METHOD: 268 questionnaires (173 practices [PR], 67 hospitals [HO], 28 university hospitals [UH]) were evaluated. Results of the last survey from 2012 are set in squared brackets. RESULTS: MPS of 121 939 [105 941] patients were reported. 98 % [95 %] of all MPS were performed with Tc-99m radiopharmaceuticals and 2 % [5 %] with Tl-201...
December 2, 2016: Nuklearmedizin. Nuclear Medicine
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