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https://www.readbyqxmd.com/read/28342798/allele-frequencies-and-other-forensic-parameters-of-the-hid-ion-ampliseq%C3%A2-identity-panel-markers-in-basques-using-the-ion-torrent-pgm%C3%A2-platform
#1
O García, A Soto, I Yurrebaso
The HID-Ion AmpliSeq™ Identity Panel amplifies 90 autosomal SNPs and 34 Y- SNPs with massively parallel sequencing (MPS) using the Ion Torrent PGM™ platform. In the present study, 105 Basques were analyzed to assess this panel. All loci were in Hardy-Weinberg equilibrium and no association between them was detected. Forensic parameters were calculated as 5.74×10(-36) for combined match probability and 99.99998% for combined power of exclusion. In conclusion, the HID Identity panel and the use of this new MPS technology are very promising tools for paternity testing and human identification in routine casework in the forensic field...
March 8, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#2
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28294991/the-carotid-intima-media-thickness-and-arterial-stiffness-of-pediatric-mucopolysaccharidosis-patients-are-increased-compared-to-both-pediatric-and-adult-controls
#3
Raymond Y Wang, Kyle D Rudser, Donald R Dengel, Elizabeth A Braunlin, Julia Steinberger, David R Jacobs, Alan R Sinaiko, Aaron S Kelly
Treatments for mucopolysaccharidoses (MPSs) have increased longevity, but cardiovascular disease causes mortality in a significant percentage of survivors. Markers must be developed to predict MPS cardiac risk and monitor efficacy of investigational therapies.MPS patients underwent carotid artery ultrasonography from which carotid intima-media thickness (cIMT) and three measures of arterial stiffness were calculated: carotid artery distensibility (cCSD), compliance (cCSC), and incremental elastic modulus (cIEM)...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28292727/analysis-of-dna-from-post-blast-pipe-bomb-fragments-for-identification-and-determination-of-ancestry
#4
Esiri Tasker, Bobby LaRue, Charity Beherec, David Gangitano, Sheree Hughes-Stamm
Improvised explosive devices (IEDs) such as pipe bombs are weapons used to detrimentally affect people and communities. A readily accessible brand of exploding targets called Tannerite® has been identified as a potential material for abuse as an explosive in pipe bombs. The ability to recover and genotype DNA from such weapons may be vital in the effort to identify suspects associated with these devices. While it is possible to recover DNA from post-blast fragments using short tandem repeat markers (STRs), genotyping success can be negatively affected by low quantities of DNA, degradation, and/or PCR inhibitors...
March 1, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28284246/ictv-virus-taxonomy-profile-ourmiavirus
#5
Massimo Turina, Brad I Hillman, Keramat Izadpanah, Mina Rastgou, Cristina Rosa, Ictv Report Consortium
Members of the plant virus genus Ourmiavirus are characterized by having non-enveloped bacilliform virions with a series of discrete lengths from 30 to 62 nm composed of a single coat protein (CP). The genome consists of three positive-sense single-stranded RNAs, each encoding a single protein. The RNA-dependent RNA polymerase (RdRp) has closest similarity to that of viruses from the family Narnaviridae; the movement protein (MP) is similar to the MPs of tombusviruses; the CP shows limited similarity to the CPs of several plant and animal viruses...
February 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28267162/multi-functional-scaling-methodology-for-translational-pharmacokinetic-and-pharmacodynamic-applications-using-integrated-microphysiological-systems-mps
#6
Christian Maass, Cynthia L Stokes, Linda G Griffith, Murat Cirit
Microphysiological systems (MPS) provide relevant physiological environments in vitro for studies of pharmacokinetics, pharmacodynamics and biological mechanisms for translational research. Designing multi-MPS platforms is essential to study multi-organ systems. Typical design approaches, including direct and allometric scaling, scale each MPS individually and are based on relative sizes not function. This study's aim was to develop a new multi-functional scaling approach for integrated multi-MPS platform design for specific applications...
March 7, 2017: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/28264742/differential-surface-glycoprofile-of-buffalo-bull-spermatozoa-during-mating-and-non-mating-periods
#7
G Accogli, G M Lacalandra, G Aiudi, S N Cox, S Desantis
The buffalo has a seasonal reproduction activity with mating and non-mating periods occurring from late autumn to winter and from late spring to beginning of autumn, respectively. Sperm glycocalyx plays an important role in reproduction as it is the first interface between sperm and environment. Semen quality is poorer during non-mating periods, so we aimed to evaluate if there were also seasonal differences in the surface glycosylation pattern of mating period spermatozoa (MPS) compared with non-mating period spermatozoa (NMPS)...
March 7, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28223066/audiological-findings-in-children-with-mucopolysaccharidoses-type-i-iv
#8
María F Vargas-Gamarra, Carlos de Paula-Vernetta, Isidro Vitoria Miñana, Isabel Ibañez-Alcañiz, Laura Cavallé-Garrido, Agustín Alamar-Velazquez
OBJECTIVE: The aim of our study is to reflect hearing impairment of 23children diagnosed with mucopolysaccharidosis (MPS) typeI, II, III and IV. METHODS: Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23children diagnosed with MPS typeI, II, III or IV followed at a Tertiary Referral Hospital between 1997 and 2015. RESULTS: Six cases of MPSI, 8 of MPSII, 4 of MPSIII and 5 of MPSIV were reviewed...
February 18, 2017: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/28220405/altered-cellular-homeostasis-in-murine-mps-i-fibroblasts-evidence-of-cell-specific-physiopathology
#9
Gustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, Vânia D'Almeida
Mucopolysaccharidosis type I (MPS I), a rare autosomal recessive disease, is caused by a deficiency of the lysosomal enzyme alfa-L-iduronidase. Impaired enzyme activity promotes glycosaminoglycans accumulation in several tissues and organs, leading to complex multisystemic complications. Several studies using animal models indicated different intracellular pathways involving MPS I physiopathology; however, the exact mechanisms underlying this syndrome are still not understood. Previous results from our group showed alterations in ionic homeostasis and cell viability of splenocytes and macrophages in Idua-/- mice...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28213360/circulating-endothelial-microparticles-and-mir-92a-in-acute-myocardial-infarction
#10
Yuchen Zhang, Junjun Cheng, Fang Chen, Changyan Wu, Junmeng Zhang, Xuejun Ren, Yu Pan, Bin Nie, Quan Li, Yu Li
Background : Microparticles (MPs) and microRNAs (miRNAs) have been shown to play important roles in coronary artery disease (CAD) by monitoring endothelial dysfunction. This study aims to investigate the diagnostic value of endothelial microparticles (EMPs) and miRNAs (miR-92a or miR-23a) as biomarkers in distinguishing patients with acute myocardial infarction (AMI) from those with CAD. Methods : Plasma samples from 37 patients with AMI, 42 patients with stable coronary artery disease (SCAD) and 35 healthy adults were collected for investigation in this study...
February 17, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28211988/intrathecal-enzyme-replacement-therapy-reverses-cognitive-decline-in-mucopolysaccharidosis-type-i
#11
Igor Nestrasil, Elsa Shapiro, Alena Svatkova, Patricia Dickson, Agnes Chen, Amy Wakumoto, Alia Ahmed, Edward Stehel, Sarah McNeil, Curtis Gravance, Elizabeth Maher
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207887/platelet-monocyte-derived-and-tissue-factor-carrying-circulating-microparticles-are-related-to-acute-myocardial-infarction-severity
#12
Gemma Chiva-Blanch, Kristian Laake, Peder Myhre, Vibeke Bratseth, Harald Arnesen, Svein Solheim, Lina Badimon, Ingebjørg Seljeflot
OBJECTIVE: Circulating microparticles (cMPs) are phospholipid-rich vesicles released from cells when activated or injured, and contribute to the formation of intracoronary thrombi. Tissue factor (TF, CD142) is the main trigger of fibrin formation and TF-carrying cMPs are considered one of the most procoagulant cMPs. Similar types of atherosclerotic lesions may lead to different types of AMI, although the mechanisms behind are unresolved. Therefore, we aimed to investigate the phenotype of cMPs found in plasma of ACS patients and its relation to AMI severity and thrombotic burden...
2017: PloS One
https://www.readbyqxmd.com/read/28193245/early-disease-progression-of-hurler-syndrome
#13
Bridget T Kiely, Jennifer L Kohler, Hannah Y Coletti, Michele D Poe, Maria L Escolar
BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler-Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28182138/construct-validity-of-the-depression-and-somatic-symptoms-scale-evaluation-by-mokken-scale-analysis
#14
Ya-Hsin Chou, Chin-Pang Lee, Chia-Yih Liu, Ching-I Hung
OBJECTIVE: Previous studies of the Depression and Somatic Symptoms Scale (DSSS), a free scale, have been based on the classical test theory, and the construct validity and dimensionality of the DSSS are as yet uncertain. The aim of this study was to use Mokken scale analysis (MSA) to assess the dimensionality of the DSSS. METHODS: A sample of 214 psychiatric outpatients with mood and anxiety disorders were enrolled at a medical center in Taiwan (age: mean [SD] =38...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28170539/objective-quantification-of-changes-in-corneal-clouding-over-time-in-patients-with-mucopolysaccharidosis
#15
Ahmed Javed, Tariq Aslam, Simon A Jones, Jane Ashworth
Purpose: We determine objective changes in corneal opacification levels over time in patients with mucopolysaccharidoses (MPS) treated with enzyme replacement therapy or hematopoietic stem cell transplant. A prospective cohort study was done of 9 patients with MPS I (Hurler) or VI (Maroteaux-Lamy). Methods: Quantification of corneal clouding using the Iris camera and full ophthalmic examination, including subjective assessment of corneal clouding, was done in 2011 and repeated in 2015/2016...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28150116/subcutaneous-implantation-of%C3%A2-microencapsulated-cells-overexpressing-%C3%AE-l-iduronidase-for-mucopolysaccharidosis-type-i-treatment
#16
Valeska Lizzi Lagranha, Barbara Zambiasi Martinelli, Guilherme Baldo, Giuseppe Ávila Testa, Talita Giacomet de Carvalho, Roberto Giugliani, Ursula Matte
Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of α-L-iduronidase (IDUA), resulting in accumulation of glycosaminoglycans (GAG) in lysosomes. Microencapsulation of recombinant cells is a promising gene/cell therapy approach that could overcome the limitations of the current available treatments. In the present study we produced alginate-poly-L-lysine-alginate (APA) microcapsules containing recombinant cells overexpressing IDUA, which were implanted in the subcutaneous space of MPS I mice in order to evaluate their potential effect as a treatment for this disease...
March 2017: Journal of Materials Science. Materials in Medicine
https://www.readbyqxmd.com/read/28143737/near-complete-correction-of-profound-metabolomic-impairments-corresponding-to-functional-benefit-in-mps-iiib-mice-after-iv-raav9-hnaglu-gene-delivery
#17
Haiyan Fu, Aaron S Meadows, Tierra Ware, Robert P Mohney, Douglas M McCarty
Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disease with complex CNS and somatic pathology due to a deficiency in α-N-acetylglucosaminidase (NAGLU). Using global metabolic profiling by mass spectrometry targeting 361 metabolites, this study detected significant decreases in 225 and increases in six metabolites in serum samples from 7-month-old MPS IIIB mice, compared to wild-type (WT) mice. The metabolic disturbances involve virtually all major pathways of amino acid, peptide (58/102), carbohydrate (18/28), lipid (111/139), nucleotide (12/24), energy (2/9), vitamin and cofactor (11/16), and xenobiotic (11/28) metabolism...
March 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28129550/atp-binding-cassette-a1-abca1-mediates-microparticle-formation-during-high-density-lipoprotein-hdl-biogenesis
#18
Anouar Hafiane, Jacques Genest
BACKGROUND AND AIMS: Micro-particles (MP) are secreted by various cells. Their biological roles in health and in disease remain unknown. Here we describe formation of MP in the process of ABCA1-dependent cholesterol efflux in different cell types. METHODS: The ATP-binding cassette transporter, subfamily A, member 1 (ABCA1) is the rate-limiting step in the biogenesis of high-density lipoproteins (HDL). We have found that ABCA1 and apoA-I contribute to the formation of MP...
February 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28125666/mononuclear-phagocytes-are-dispensable-for-cardiac-remodeling-in-established-pressure-overload-heart-failure
#19
Bindiya Patel, Mohamed Ameen Ismahil, Tariq Hamid, Shyam S Bansal, Sumanth D Prabhu
BACKGROUND: Although cardiac and splenic mononuclear phagocytes (MPs), i.e., monocytes, macrophages and dendritic cells (DCs), are key contributors to cardiac remodeling after myocardial infarction, their role in pressure-overload remodeling is unclear. We tested the hypothesis that these immune cells are required for the progression of remodeling in pressure-overload heart failure (HF), and that MP depletion would ameliorate remodeling. METHODS AND RESULTS: C57BL/6 mice were subjected to transverse aortic constriction (TAC) or sham operation, and assessed for alterations in MPs...
2017: PloS One
https://www.readbyqxmd.com/read/28125077/cognitive-outcomes-and-age-of-detection-of-severe-mucopolysaccharidosis-type-1
#20
Scott D Grosse, Wendy K K Lam, Lisa D Wiggins, Alex R Kemper
The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the evidence suggesting that earlier treatment with hematopoietic cell transplantation (HCT) for the most severe form, Hurler syndrome (MPS IH), would lead to improved cognitive outcomes. Consistent evidence from peer-reviewed studies suggests that transplantation in the first year of life is associated with improved developmental quotient or intelligence quotient and continued cognitive growth, with earlier age of treatment associated with improved outcomes...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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