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Stefanie Amend, Roland Frankenberger, Susanne Lücker, Eugen Domann, Norbert Krämer
OBJECTIVES: The present study aimed to establish Lactobacillus casei in a completely automated Streptococcus mutans-based artificial mouth model and to investigate secondary caries inhibiting properties of glass ionomer cements / resin composite groups in vitro. METHODS: Sixty extracted, caries-free human third molars were used for preparation of standardized class-V-cavities. Specimens were restored with a resin-modified (Photac Fil; PF) as well as a conventional glass ionomer cement (Ketac Molar; KM) and one resin composite bonded with and without conduction of etch-and-rinse technique (Prime&Bond NT, Ceram X mono; C+ERT, C)...
March 12, 2018: Dental Materials: Official Publication of the Academy of Dental Materials
Anna Tylki-Szymańska, Paulina Szymańska-Rożek, Piotr Hasiński, Agnieszka Ługowska
Deficiency of beta-glucocerebrosidase (GBA) leads to Gaucher disease (GD), an inherited disorder characterised by storage of glucosylceramide (GlcCer) in lysosomes of tissue macrophages. Macrophages activated by accumulated GlcCer secrete chitotriosidase. Plasma chitotriosidase activity is significantly elevated in patients with active GD and has been suggested to indicate total body Gaucher cell load. There are two biomarkers used to assess the severity of GD - chitotriosidase has been measured for over 20 years, and deacylated GlcCer, known as glucosylsphingosine (GlcSph) is thought to be even more adequate, as it is almost a direct storage substrate...
February 27, 2018: Molecular Genetics and Metabolism
Alberto Ortiz, Dominique P Germain, Robert J Desnick, Juan Politei, Michael Mauer, Alessandro Burlina, Christine Eng, Robert J Hopkin, Dawn Laney, Aleš Linhart, Stephen Waldek, Eric Wallace, Frank Weidemann, William R Wilcox
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the "classic" phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Enzyme replacement therapy (ERT) and adjunctive treatments can provide significant clinical benefit...
February 28, 2018: Molecular Genetics and Metabolism
U Plöckinger, V Prasad, A Ziagaki, N Tiling, A Poellinger
BACKGROUND: Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. In adult patients, PD is characterized by slowly progressive limb-girdle and trunk myopathy and restrictive respiratory insufficiency. Enzyme replacement therapy (ERT) is available, improving or stabilizing muscle-function in some and slowing deterioration in other patients. Unfortunately, there is no biomarker available to indicate therapeutic efficacy and/or disease activity...
March 9, 2018: Human Genomics
Julie B Eisengart, Kyle D Rudser, Yong Xue, Paul Orchard, Weston Miller, Troy Lund, Ans Van der Ploeg, Jean Mercer, Simon Jones, Karl Eugen Mengel, Seyfullah Gökce, Nathalie Guffon, Roberto Giugliani, Carolina F M de Souza, Elsa G Shapiro, Chester B Whitley
PurposeEarly treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate the blood-brain barrier (BBB) support recommendations that hematopoietic cell transplantation (HCT) treat the severe, neurodegenerative form (Hurler syndrome). Ethics precludes randomized comparison of ERT with HCT, but insight into this comparison is presented with an international cohort of patients with Hurler syndrome who received long-term ERT from a young age...
March 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Clinton G Lauritsen, Abigail L Chua, Stephanie J Nahas
PURPOSE OF REVIEW: Menopause is a life-changing event in numerous ways. Many women with migraine hold hope that the transition to the climacteric state will coincide with a cessation or improvement of migraine. This assumption is based mainly on common lay perceptions as well as assertions from many in the healthcare community. Unfortunately, evidence suggests this is far from the rule. Many women turn to a general practitioner or a headache specialist for prognosis and management. A natural instinct is to manipulate the offending agent, but in some cases, this approach backfires, or the concern for adverse events outweighs the desire for a therapeutic trial, and other strategies must be pursued...
March 6, 2018: Current Treatment Options in Neurology
Margaret McAuley, Noel Mesa-Torres, Aisling McFall, Sarah Morris, Meilan Huang, Angel Pey, David J Timson
Galactokinase catalyses the site- and stereospecific phosphorylation of α-D-galactose. As such it has attracted interest as a biocatalyst for the introduction of phosphate groups into monosaccharides. However, attempts to broaden the substrate range of human galactokinase have generally resulted in substantially reduced activity. The enzyme also has biotechnological potential in enzyme replacement therapy (ERT) for type II galactosemia. The return-to-consensus approach can be used to identify residues which can be altered to increase protein stability and enzyme activity...
March 5, 2018: Chembiochem: a European Journal of Chemical Biology
Douglas S Mennin, David M Fresco, Mia Skytte O'Toole, Richard G Heimberg
OBJECTIVE: Generalized anxiety disorder (GAD) and major depression (MDD), especially when they co-occur, are associated with suboptimal treatment response. One common feature of these disorders is negative self-referential processing (NSRP; i.e., worry, rumination), which worsens treatment outcome. Emotion Regulation Therapy (ERT) integrates principles from affect science with traditional and contemporary cognitive-behavioral treatments to identify and modify the functional nature of NSRP by targeting motivational and regulatory mechanisms, as well as behavioral consequences...
March 2018: Journal of Consulting and Clinical Psychology
Ratna Dua Puri, Seema Kapoor, Priya S Kishnani, Ashwin Dalal, Neerja Gupta, Mamta Muranjan, Shubha R Phadke, Anupam Sachdeva, Ishwar C Verma, Pramod K Mistry
JUSTIFICATION: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinical manifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD has paucity of information and optimal management guidelines for Indian patients. PROCESS: Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics...
February 15, 2018: Indian Pediatrics
Qing Liao, Yaping Deng, Xiaoqing Shi, Yuanyuan Sun, Weidong Duan, Jichun Wu
Precise delineation of contaminant plume distribution is essential for effective remediation of contaminated sites. Traditional in situ investigation methods like direct-push (DP) sampling are accurate, but are usually intrusive and costly. Electrical resistivity tomography (ERT) method, as a non-invasive geophysical technique to map spatiotemporal changes in resistivity of the subsurface, is becoming increasingly popular in environmental science. However, the resolution of ERT for delineation of contaminant plumes still remains controversial...
March 3, 2018: Environmental Monitoring and Assessment
Christian H Pfob, Matthias Eiber, Peter Luppa, Florian Maurer, Tobias Maurer, Robert Tauber, Calogero D'Alessandria, Benedikt Feuerecker, Klemens Scheidhauer, Armin Ott, Uwe Heemann, Markus Schwaiger, Christoph Schmaderer
BACKGROUND: Amino acid co-infusion for renal protection in endoradiotherapy (ERT) applied as prostate-specific membrane antigen (PSMA)-targeted radioligand therapy (RLT) or peptide receptor radionuclide therapy (PRRT) has been shown to cause severe hyperkalemia. The pathophysiology behind the rapid development of hyperkalemia is not well understood. We hypothesized that the hyperkalemia should be associated with metabolic acidosis. RESULTS: Twenty-two patients underwent ERT...
February 27, 2018: EJNMMI Research
Michael Przybylski
Alpha-galactosidase (αGal) is a lysosomal enzyme that hydrolyses the alphagalactosyl moiety from glycosphingo-lipids. Mutations in the αGal genes lead to defect enzyme resulting in substrate accumulation and pathophysiology. The deficiency of αGal, called Fabry's Disease (FD), belongs to the lysosomal storage diseases. Effective treatment of FD has been developed by enzyme replacement therapy (ERT) by infusion of recombinant enzyme to increase enzyme levels and reduce accumulated substrate. Immuno-reactivity and IgG antibody formation are major, therapy-limiting complications of ERT...
February 23, 2018: ChemMedChem
Aneta Monika Gawlik, Magdalena Hankus, Kamila Szeliga, Aleksandra Antosz, Tomasz Gawlik, Kamil Soltysik, Agnieszka Drosdzol-Cop, Krzysztof Wilk, Grzegorz Kudela, Tomasz Koszutski, Ewa Malecka-Tendera
Objective: Estrogen replacement therapy (ERT) for Turner syndrome (TS) is a widely discussed topic; however, the optimal model of ERT for patients with delayed diagnosis and/or initiation of therapy is still unclear, mainly due to insufficient data. We present the results of a prospective observational single-center study in which the efficacy of late-onset puberty induction by one-regimen transdermal ERT in TS girls was evaluated. Methods: The analysis encompassed 49 TS girls (63...
2018: Frontiers in Endocrinology
Ari Zimran, Michael Wajnrajch, Betina Hernandez, Gregory M Pastores
Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell-expressed recombinant therapeutic protein approved by the US Food and Drug Administration for humans. Here, we review the findings across six key taliglucerase alfa clinical studies. A total of 33 treatment-naïve adult patients were randomized to taliglucerase alfa 30 U/kg or 60 U/kg in a 9-month, multicentre, randomized, double-blind, parallel-group, dose-comparison pivotal study, after which eligible patients continued into two consecutive extension studies; 17 treatment-naïve adult patients completed 5 total years of treatment with taliglucerase alfa...
February 23, 2018: Orphanet Journal of Rare Diseases
Magdalena Cerón-Rodríguez, Edgar Barajas-Colón, Lyuva Ramírez-Devars, Claudia Gutiérrez-Camacho, Juan L Salgado-Loza
BACKGROUND: Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play-performance scale (LS) after enzymatic replacement therapy (ERT) and to describe our experience in the treatment of children with GD1. METHODS: Five children with diagnosis of GD1 received imiglucerase 60 mg/kg every two weeks. LS, hepatomegaly, splenomegaly, hemoglobin, platelets, and growth rate were measured every 6 months after beginning ERT for 30 months...
January 2018: Molecular Genetics & Genomic Medicine
Maddalena Migliavacca, Andrea Assanelli, Maurilio Ponzoni, Roberta Pajno, Federica Barzaghi, Fabio Giglio, Francesca Ferrua, Marta Frittoli, Immacolata Brigida, Francesca Dionisio, Roberto Nicoletti, Miriam Casiraghi, Maria Grazia Roncarolo, Claudio Doglioni, Jacopo Peccatori, Fabio Ciceri, Maria Pia Cicalese, Alessandro Aiuti
Adenosine deaminase-deficient severe combined immunodeficiency disease (ADA-SCID) is a primary immune deficiency characterized by mutations in the ADA gene resulting in accumulation of toxic compounds affecting multiple districts. Hematopoietic stem cell transplantation (HSCT) from a matched donor and hematopoietic stem cell gene therapy are the preferred options for definitive treatment. Enzyme replacement therapy (ERT) is used to manage the disease in the short term, while a decreased efficacy is reported in the medium-long term...
2018: Frontiers in Immunology
Yvonne Schuller, Maarten Arends, Simon Körver, Mirjam Langeveld, Carla E M Hollak
Fabry disease (FD) is a rare X-chromosome-linked lysosomal storage disorder. Although initial expectations of enzyme replacement therapy (ERT) were high, it is now clear that real-world effectiveness is disappointing and evidence gathering has been inadequate. In retrospect, development of ERT for FD had several shortcomings. Little convincing evidence on the effectiveness existed at time of authorization. Also, post-marketing evaluation failed to generate sufficient and relevant data for adequate evaluation on effectiveness...
February 15, 2018: Drug Discovery Today
Argang Kazemzadeh, Cynthia Elias, Melih Tamer, Farhad Ein-Mozaffari
The hydrodynamics of gas-liquid two-phase flow in a single-use bioreactor were investigated in detail both experimentally and numerically. Electrical resistance tomography (ERT) and dynamic gas disengagement (DGD) combined with computational fluid dynamics (CFD) were employed to assess the effect of the volumetric gas flow rate and impeller speed on the gas-liquid flow field, local and global gas holdup values, and Sauter mean bubble diameter. From the results obtained from DGD coupled with ERT, the bubble sizes were determined...
February 14, 2018: Bioprocess and Biosystems Engineering
William M Pardridge, Ruben J Boado, Roberto Giugliani, Mathias Schmidt
BACKGROUND: Mucopolysaccharidosis type I (MPSI) is caused by mutations in the gene encoding the α-L-iduronidase (IDUA) lysosomal enzyme and the majority of MPSI patients have severe central nervous system (CNS) involvement. Enzyme replacement therapy (ERT) with recombinant IDUA does not treat the CNS, due to the lack of transport of the enzyme across the blood-brain barrier (BBB). Human IDUA has been re-engineered as an IgG-IDUA fusion protein, valanafusp alpha, where the IgG domain is a monoclonal antibody (MAb) against the human insulin receptor (HIR)...
February 13, 2018: BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
Liga Jasulaneca, Jelena Kosmaca, Raimonds Meija, Jana Andzane, Donats Erts
This review summarizes relevant research in the field of electrostatically actuated nanobeam-based nanoelectromechanical (NEM) switches. The main switch architectures and structural elements are briefly described and compared. Investigation methods that allow for exploring coupled electromechanical interactions as well as studies of mechanically or electrically induced effects are covered. An examination of the complex nanocontact behaviour during various stages of the switching cycle is provided. The choice of the switching element and the electrode is addressed from the materials perspective, detailing the benefits and drawbacks for each...
2018: Beilstein Journal of Nanotechnology
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