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https://www.readbyqxmd.com/read/27913904/association-between-brain-structural-anomalies-electroencephalogram-and-history-of-seizures-in-mucopolysaccharidosis-type-ii-hunter-syndrome
#1
Ramón Ernesto Jiménez-Arredondo, Aniel Jessica Leticia Brambila-Tapia, Francisco Miguel Mercado-Silva, Martha Ortiz-Aranda, Verónica Benites-Godinez, Graciela Olmos-García-de-Alba, Luis Eduardo Figuera
Mucopolysaccharidosis type II or Hunter syndrome (MPS II) is a genetic disease that can course with intellectual impairment and central nervous system (CNS) alterations. To date, no report has documented electroencephalogram (EEG) measures associated with CNS alterations, detected by imaging studies, and the history of seizures in patients with MPS II. Therefore, we decided to search this association. We included 9 patients with MPS II and performed imaging studies of the brain to detect the presence of cortico-subcortical atrophy, enlarged subarachnoid space and supratentorial ventricular size...
December 2, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27888093/randomized-trial-of-ratg-daclizumab-vs-ratg-alemtuzumab-as-dual-induction-therapy-in-renal-transplantation-results-at-8-years-of-follow-up
#2
Gaetano Ciancio, Jeffrey J Gaynor, Giselle Guerra, Junichiro Sageshima, David Roth, Linda Chen, Warren Kupin, Adela Mattiazzi, Lissett Tueros, Sandra Flores, Lois Hanson, Phillip Ruiz, Rodrigo Vianna, George W Burke
Our goal in using dual induction therapy is to bring the kidney transplant recipient closer (through more effectively timed lymphodepletion) to an optimally immunosuppressed state. Here, we report long-term results of a prospective randomized trial comparing (Group I,N=100) rATG/Dac (3 rATG, 2 Dac doses) vs. (Group II,N=100) rATG/Alemtuzumab(C1H) (1 dose each), using reduced tacrolimus dosing, EC-MPS, and early corticosteroid withdrawal. Lower EC-MPS dosing was targeted in Group II to avoid severe leukopenia...
November 22, 2016: Transplant Immunology
https://www.readbyqxmd.com/read/27883178/genotype-phenotype-correlation-in-44-czech-slovak-croatian-and-serbian-patients-with-mucopolysaccharidosis-type-ii
#3
Lenka Dvorakova, Hana Vlaskova, Adrijan Sarajlija, Danijela Petkovic Ramadza, Helena Poupetova, Eva Hruba, Anna Hlavata, Vladimir Bzduch, Karolina Peskova, Gabriela Storkanova, Bozica Kecman, Maja Djordjevic, Ivo Baric, Ksenija Fumic, Ingeborg Barisic, Martin Reboun, Jan Kulhanek, Jiri Zeman, Martin Magner
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analysed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27864098/screening-for-mucopolysaccharidoses-in-the-turkish-population-analytical-and-clinical-performance-of-an-age-range-specific-dye-based-urinary-glycosaminoglycan-assay
#4
Khaled El Moustafa, Serap Sivri, Sevilay Karahan, Turgay Coşkun, Filiz Akbıyık, İncilay Lay
Comprehensive analytical and diagnostic performance of urinary quantitative GAG analysis with dimethylmethylene blue (DMB) and the age-specific reference ranges were determined in Turkish population, which has a high incidence of MPSs. Precision, linearity, recovery and accuracy/trueness, limits, stability, and effect of interferents were tested according to CLSI guideline. Clinical performance was evaluated with ROC analyses including 45 MPS patients. Intra-day and inter-day precisions were <5% and <11% (CV), respectively...
November 15, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27832416/slow-continuous-enzyme-replacement-via-spinal-csf-in-dogs-with-the-paediatric-onset-neurodegenerative-disease-mps-iiia
#5
Barbara King, Neil R Marshall, Sofia Hassiotis, Paul J Trim, Justin Tucker, Kathryn Hattersley, Marten F Snel, Robert D Jolly, John J Hopwood, Kim M Hemsley
Intra-cerebrospinal fluid (CSF) injection of recombinant human lysosomal enzyme is a potential treatment strategy for several neurodegenerative lysosomal storage disorders including Sanfilippo syndrome (Mucopolysaccharidosis type IIIA; MPS IIIA). Here we have utilised the MPS IIIA Huntaway dog model to compare the effectiveness of the repeated intermittent bolus injection strategy being used in the trials with an alternate approach; slow, continual infusion of replacement enzyme (recombinant human sulphamidase; rhSGSH) into the spinal CSF using a SynchroMed II® pump attached to a spinal infusion cannula...
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27821539/endothelial-microparticles-from-acute-coronary-syndrome-patients-induce-premature-coronary-artery-endothelial-cells-ageing-and-thrombogenicity-role-of-the-ang-ii-at1-receptor-nadph-oxidase-mediated-activation-of-mapks-and-pi3-kinase-pathways
#6
Malak Abbas, Laurence Jesel, Cyril Auger, Lamia K Amoura, Nathan Messas, Guillaume Manin, Cordula Rumig, Antonio J León-González, Thais P Ribeiro, Grazielle C Silva, Raghida Abou-Merhi, Eva Hamade, Markus Hecker, Yannick Georg, Nabil Chakfe, Patrick Ohlmann, Valérie B Schini-Kerth, Florence Toti, Olivier Morel
BACKGROUND: -Microparticles (MPs) have emerged as a surrogate marker of endothelial dysfunction and cardiovascular risk. This study examined the potential of MPs from senescent endothelial cells (ECs) or from patients with acute coronary syndrome (ACS) to promote premature ECs ageing and thrombogenicity. METHODS: -Primary porcine coronary ECs were isolated from the left circumflex coronary artery. MPs were prepared from ECs and venous blood from patients with ACS (n=30) and from healthy volunteers (n=6) by sequential centrifugation...
November 7, 2016: Circulation
https://www.readbyqxmd.com/read/27799031/calcium-calpain-dependent-pathways-regulate-vesiculation-in-malignant-breast-cells
#7
Jack Taylor, Ritu Jaiswal, Mary Bebawy
Multidrug resistance in cancer (MDR) occurs when tumours become cross-resistant to a range of different anticancer agents. One mechanism by which MDR can be acquired is through cell to cell communication pathways. Membrane-derived microparticles (MPs) are emerging as important signaling molecules in this process. MPs are released from most eukaryotic cells and transfer functional proteins and nucleic acids to recipient cells conferring deleterious traits within the cancer cell population including MDR, metastasis, and angiogenesis...
October 26, 2016: Current Cancer Drug Targets
https://www.readbyqxmd.com/read/27794412/prediction-of-distant-recurrence-in-resected-stage-i-and-ii-lung-adenocarcinoma
#8
Beatrice Aramini, Christian Casali, Alessandro Stefani, Stefania Bettelli, Susanne Wagner, Zaina Sangale, Elisha Hughes, Jerry S Lanchbury, Antonino Maiorana, Uliano Morandi
OBJECTIVES: Optimal procedures for adjuvant treatment and post-surgical surveillance of resected non-small-cell lung cancer remain under discussion. Pathological features are the main determinant of follow-up therapy but have limited ability to identify patients at risk of recurrence. Increasingly, molecular markers are incorporated into clinical decision-making, including measures of tumor growth. The CCP score is a quantitative, molecular measure of proliferation derived from the RNA expression of 31 cell cycle genes and a component of the molecular prognostic score (mPS)...
November 2016: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/27789401/generation-of-human-induced-pluripotent-stem-cell-ipsc-line-from-an-unaffected-female-carrier-of-mucopolysaccharidosis-type-ii-mps-ii-disorder
#9
Eszter Varga, Csilla Nemes, Eszter Kovács, István Bock, Norbert Varga, Anita Fehér, András Dinnyés, Julianna Kobolák
Peripheral blood was collected from a 39-year-old unaffected female carrier of an X-linked recessive mutation of Iduronate 2-sulfatase gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC showed normal karyotype...
October 3, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27789399/generation-of-mucopolysaccharidosis-type-ii-mps-ii-human-induced-pluripotent-stem-cell-ipsc-line-from-a-1-year-old-male-with-pathogenic-ids-mutation
#10
Eszter Varga, Csilla Nemes, István Bock, Norbert Varga, Anita Fehér, András Dinnyés, Julianna Kobolák
Peripheral blood was collected from a 1-year-old male patient with an X-linked recessive mutation of Iduronate 2-sulfatase (IDS) gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of the iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC line showed normal karyotype...
October 1, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27789398/generation-of-mucopolysaccharidosis-type-ii-mps-ii-human-induced-pluripotent-stem-cell-ipsc-line-from-a-3-year-old-male-with-pathogenic-ids-mutation
#11
Eszter Varga, Csilla Nemes, István Bock, Norbert Varga, Anita Fehér, Julianna Kobolák, András Dinnyés
Peripheral blood was collected from a 3-year-old male patient with an X-linked recessive mutation of Iduronate 2-sulfatase (IDS) gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of the iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC line showed normal karyotype...
October 1, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27789394/generation-of-mucopolysaccharidosis-type-ii-mps-ii-human-induced-pluripotent-stem-cell-ipsc-line-from-a-7-year-old-male-with-pathogenic-ids-mutation
#12
Eszter Varga, Csilla Nemes, István Bock, Norbert Varga, Anita Fehér, Julianna Kobolák, András Dinnyés
Peripheral blood was collected from a 7-year-old male patient with an X-linked recessive mutation of Iduronate 2-sulfatase (IDS) gene (NM_000202.7(IDS):c.182C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of the iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC line showed normal karyotype...
October 1, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27785713/i-cell-disease-mucolipidosis-ii-alpha-beta-from-screening-to-molecular-diagnosis
#13
Ankur Singh, Rajniti Prasad, Aditya Kumar Gupta, Anil Sharma, Sandra Alves, Maria Francisca Coutinho, Seema Kapoor, Om Prakash Mishra
Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a battery of tests from screening to molecular diagnosis. Besides discussing differential diagnosis of MPS like features with negative urinary Glycosaminoglycans (GAG), the authors also discuss the utility of p-nitrocatechol sulphate based chemical test as an important screening tool, besides establishing molecular basis in index case...
October 27, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27741499/in%C3%A2-vivo-biodistribution-and-toxicity-assessment-of-triplet-triplet-annihilation-based-upconversion-nanocapsules
#14
Bo Tian, Qiuhong Wang, Qianqian Su, Wei Feng, Fuyou Li
Triplet-triplet annihilation (TTA)-based upconversion nanocapsules (UCNCs) have great potential in biological and medical applications. However, there are numerous unresolved issues with respect to the safety of these novel nanomaterials. In this work, for the first time, we studied the in vivo biodistribution of UCNCs which were synthesized by co-loading platinum (II)-tetraphenyl-tetrabenzoporphyrin (PtTPBP) and boron dipyrromethene derivative (BDP) into bovine serum albumin (BSA)-stabilized soybean oil droplets, and systematically assessed the potential toxicity of UCNCs both in vitro and in vivo...
October 8, 2016: Biomaterials
https://www.readbyqxmd.com/read/27724940/parents-experiences-of-living-with-and-caring-for-children-adolescents-and-young-adults-with-mucopolysaccharidosis-mps
#15
S Somanadhan, P J Larkin
BACKGROUND: Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseases is increasingly novel, and of clinical importance to the population, the lack of empirical data in the field to support policy and strategy development is a compelling argument for further research to be sought...
October 10, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27718145/newborn-screening-for-mucopolysaccharidoses-a-pilot-study-of-measurement-of-glycosaminoglycans-by-tandem-mass-spectrometry
#16
Francyne Kubaski, Robert W Mason, Akiko Nakatomi, Haruo Shintaku, Li Xie, Naomi N van Vlies, Heather Church, Roberto Giugliani, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Tadao Orii, Toshiyuki Fukao, Adriana M Montaño, Shunji Tomatsu
BACKGROUND: Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressive and usually result in irreversible skeletal, visceral, and/or brain damage, highlighting a need for early diagnosis. METHODS: This pilot study analyzed 2862 dried blood spots (DBS) from newborns and 14 DBS from newborn patients with MPS (MPS I, n = 7; MPS II, n = 2; MPS III, n = 5). Disaccharides were produced from polymer GAGs by digestion with chondroitinase B, heparitinase, and keratanase II...
October 7, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27707435/progression-of-polysomnographic-abnormalities-in-mucolipidosis-ii-i-cell-disease
#17
William I Wooten, Marianne S Muhlebach, Joseph Muenzer, Ceila E Loughlin, Bradley V Vaughn
Mucolipidosis II (Inclusion cell or I-cell disease) is an autosomal recessive lysosomal storage disorder clinically comparable to the mucopolysaccharidoses (MPS), characterized by progressive respiratory and neurologic deterioration. Sleep problems, especially obstructive sleep apnea (OSA) and disrupted sleep architecture, are observed in other lysosomal storage diseases but have not been described in mucolipidosis II. We report the progression of polysomnographic abnormalities in a child with mucolipidosis II, demonstrated by worsening sleep-related hypoventilation, OSA, and sleep state fragmentation despite advancing PAP therapy...
September 29, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/27695081/structural-basis-of-mucopolysaccharidosis-type-ii-and-construction-of-a-database-of-mutant-iduronate-2-sulfatases
#18
Seiji Saito, Kazuki Ohno, Torayuki Okuyama, Hitoshi Sakuraba
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked genetic disorder caused by a deficiency of iduronate 2-sulfatase (IDS), and missense mutations comprising about 30% of the mutations responsible for MPS II result in heterogeneous phenotypes ranging from the severe to the attenuated form. To elucidate the basis of MPS II from the structural viewpoint, we built structural models of the wild type and mutant IDS proteins resulting from 131 missense mutations (phenotypes: 67 severe and 64 attenuated), and analyzed the influence of each amino acid substitution on the IDS structure by calculating the accessible surface area, the number of atoms affected and the root-mean-square distance...
2016: PloS One
https://www.readbyqxmd.com/read/27638117/association-of-swine-leukocyte-antigen-class-ii-haplotypes-and-immune-related-traits-in-a-swine-line-selected-for-resistance-to-mycoplasmal-pneumonia
#19
Asako Ando, Atsuko Shigenari, Chihiro Kojima-Shibata, Mitsuru Nakajoh, Keiichi Suzuki, Hitoshi Kitagawa, Takashi Shiina, Hidetoshi Inoko, Hirohide Uenishi
By selective breeding for five generations, a Landrace line has been recently established to improve resistance to mycoplasmal pneumonia of swine (MPS), daily gain (DG), back fat thickness (BF), and plasma cortisol concentrations (COR). To clarify the involvement of swine leukocyte antigen (SLA) polymorphisms in the selection process, we investigated possible associations of 11 SLA-class II haplotypes with selected traits or immune parameters. Pigs with the low-resolution SLA haplotype Lr-0.23 or Lr-0.13, which increased in frequency with the passage of generations, had less severe pathological lesions of MPS, increased leukocyte phagocytic activity, and higher white blood cell counts...
October 2016: Comparative Immunology, Microbiology and Infectious Diseases
https://www.readbyqxmd.com/read/27618324/neuroimaging-findings-in-patients-with-mucopolysaccharidosis-what-you-really-need-to-know
#20
Roberta Reichert, Lillian Gonçalves Campos, Filippo Vairo, Carolina Fischinger Moura de Souza, Juliano Adams Pérez, Juliana Ávila Duarte, Fernando Araujo Leiria, Maurício Anés, Leonardo Modesti Vedolin
Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the group of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). The products of GAG degradation accumulate within lysosomes and in the extracellular space, thereby interfering with the degradation of other macromolecules. This process leads to chronic degeneration of cells, which in turn affects multiple organs and systems...
September 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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