Mucopolysaccharidoses in northern Brazil: targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy

Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers.

Padronização e aplicação da técnica de ELISA (Enzyme-linked immunosorbent assay) indireto com anticorpo de captura para a detecção de anticoepos contra o cicovírus suíno tipo 2

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Intoxicação e alterações metabólicas do algodão sensível e resistente ao amônio glufosinate

Pós-graduação em Agronomia (Agricultura) - FCA

Espécies de Meloidogyne Goeldi em cafeeiro no município de Araguari-MG

Pós-graduação em Agronomia (Entomologia Agrícola) - FCAV

A liquid-phase-blocking concanavalin A enzyme-linked immunosorbent assay for the detection of antibodies against Newcastle disease virus in serum of free-ranging pigeons

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Transenamel and Transdentinal Penetration of Hydrogen Peroxide Applied to Cracked or Microabrasioned Enamel

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Cyclodextrin Production by Bacillus lehensis Isolated from Cassava Starch: Characterisation of a Novel Enzyme

The properties of a previously unknown enzyme, denominated cyclodextrin glycosyltransferase, produced from Bacillus lehensis, were evaluated using affinity chromatography for protein purification. Enzyme characteristics (optimum pH and temperature; pH and temperature stability), the influence of substances on the enzyme activity, enzyme kinetics, and cyclodextrin production were analysed. Cyclodextrin glycosyltransferase was purified up to 320.74-fold by affinity chromatography using beta-cyclodextrin as the binder and it exhibited 8.71% activity recovery. This enzyme is a monomer with a molecular weight of 81.27 kDa, as estimated by SDS-PAGE. Optimum temperature and pH for cydodextrin glycosyltransferase were 55 degrees C and 8.0, respectively. The Michaelis-Menten constant was 8.62 g/l during maximum velocity of 0.858 g/l.h.

Characterization of a Hexameric Exo-Acting GH51 alpha-l-Arabinofuranosidase from the Mesophilic Bacillus subtilis

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Adhesion of substrate-adherent combinations for early composite repairs: Effect of intermediate adhesive resin application

This study evaluated the effect of intermediate adhesive resin application (IAR) on tensile bond strength (TBS) for early composite repairs in situations where substrate and repair composite bonded together were once of the same kind with the substrate (similar) and once other than the substrate material (dissimilar). Specimens from three types of composites (TPH Spectrum (TPH), Charisma (CHA) and Filtek Z250 (Z250)) were fabricated. The specimens in each composite group (n=72) were randomly divided into six subgroups (n=12). In each composite group, the similar and two dissimilar composites were bonded onto the substrates once using an IAR (Adper Single Bond Plus) and once without. After water storage for I week at 37 degrees C, substrate-adherent combinations were submitted to tensile test. Data were analyzed with three-way ANOVA and Tukey's tests (alpha=0.05). The substrate-adherent combination (p=0.0001), adherent (repair) composite (p=0.0001), and application of IAR (p=0.0001) significantly affected the results. Utilization of IAR improved the repair bond strength for all composite combinations. (C) 2013 Elsevier Ltd. All rights reserved.

Search for gravitational wave ringdowns from perturbed intermediate mass black holes in LIGO-Virgo data from 2005-2010

We report results from a search for gravitational waves produced by perturbed intermediate mass black holes ( IMBH) in data collected by LIGO and Virgo between 2005 and 2010. The search was sensitive to astrophysical sources that produced damped sinusoid gravitational wave signals, also known as ringdowns, with frequency 50 <= f(0)/Hz <= 2000 and decay timescale 0.0001 less than or similar to tau/s less than or similar to 0.1 characteristic of those produced in mergers of IMBH pairs. No significant gravitational wave candidate was detected. We report upper limits on the astrophysical coalescence rates of IMBHs with total binary mass 50 <= M/ M circle dot <= 450 and component mass ratios of either 1: 1 or 4: 1. For systems with total mass 100 <= M/M circle dot <= 150, we report a 90% confidence upper limit on the rate of binary IMBH mergers with nonspinning and equal mass components of 6.9 x 10(-8) Mpc(-3) yr(-1). We also report a rate upper limit for ringdown waveforms from perturbed IMBHs, radiating 1% of their mass as gravitational waves in the fundamental, l = m = 2, oscillation mode, that is nearly three orders of magnitude more stringent than previous results.

The quest for an intermediate-scale accidental axion and further ALPs

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Citrus pulp and enzyme complex for growing and finishing pigs

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Deconstructing the DGAT1 enzyme: Binding sites and substrate interactions

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Evaluation of Three Enzyme Immunoassays for Diagnosis of Clostridium difficile-Associated Diarrhea in Foals

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)