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.

Primary urinary bladder haemangiosarcoma in a captive saddleback tamarin (Saguinus fuscicollis)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Diuron-induced rat urinary bladder carcinogenesis: Mode of action and human relevance evaluations using the International Programme on Chemical Safety framework

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

The Role of Implant/Abutment System on Torque Maintenance of Retention Screws and Vertical Misfit of Implant-Supported Crowns Before and After Mechanical Cycling

Purpose: This study aimed to evaluate the role of the implant/abutment system on torque maintenance of titanium retention screws and the vertical misfit of screw-retained implant-supported crowns before and after mechanical cycling. Materials and Methods: Three groups were studied: morse taper implants with conical abutments (MTC group), external-hexagon implants with conical abutments (EHC group), and external-hexagon implants with UCLA abutments (EHU group). Metallic crowns casted in cobalt-chromium alloy were used (n = 10). Retention screws received insertion torque and, after 3 minutes, initial detorque was measured. Crowns were retightened and submitted to cyclic loading testing under oblique loading (30 degrees) of 130 +/- 10 N at 2 Hz of frequency, totaling 1 x 10(6) cycles. After cycling, final detorque was measured. Vertical misfit was measured using a stereomicroscope. Data were analyzed by analysis of variance, Tukey test, and Pearson correlation test (P < .05). Results: All detorque values were lower than the insertion torque both before and after mechanical cycling. No statistically significant difference was observed among groups before mechanical cycling. After mechanical cycling, a statistically significantly lower loss of detorque was verified in the MTC group in comparison to the EHC group. Significantly lower vertical misfit values were noted after mechanical cycling but there was no difference among groups. There was no significant correlation between detorque values and vertical misfit. Conclusions: All groups presented a significant decrease of torque before and after mechanical cycling. The morse taper connection promoted the highest torque maintenance. Mechanical cycling reduced the vertical misfit of all groups, although no significant correlation between vertical misfit and torque loss was found.

Systematic Variation in the Pattern of Gene Paralog Retention between the Teleost Superorders Ostariophysi and Acanthopterygii

Teleost fish underwent whole-genome duplication around 450 Ma followed by diploidization and loss of 80-85% of the duplicated genes. To identify a deep signature of this teleost-specific whole-genome duplication (TSGD), we searched for duplicated genes that were systematically and uniquely retained in one or other of the superorders Ostariophysi and Acanthopterygii. TSGD paralogs comprised 17-21% of total gene content. Some 2.6% (510) of TSGD paralogs were present as pairs in the Ostariophysi genomes of Danio rerio (Cypriniformes) and Astyanax mexicanus (Characiformes) but not in species from four orders of Acanthopterygii (Gasterosteiformes, Gasterosteus aculeatus; Tetraodontiformes, Tetraodon nigroviridis; Perciformes, Oreochromis niloticus; and Beloniformes, Oryzias latipes) where a single copy was identified. Similarly, 1.3% (418) of total gene number represented cases where TSGD paralogs pairs were systematically retained in the Acanthopterygian but conserved as a single copy in Ostariophysi genomes. We confirmed the generality of these results by phylogenetic and synteny analysis of 40 randomly selected linage-specific paralogs (LSPs) from each superorder and completed with the transcriptomes of three additional Ostariophysi species (Ictalurus punctatus [Siluriformes], Sinocyclocheilus species [Cypriniformes], and Piaractus mesopotamicus [Characiformes]). No chromosome bias was detected in TSGD paralog retention. Gene ontology (GO) analysis revealed significant enrichment of GO terms relative to the human GO SLIM database for growth, Cell differentiation, and Embryo development in Ostariophysi and for Transport, Signal Transduction, and Vesicle mediated transport in Acanthopterygii. The observed patterns of paralog retention are consistent with different diploidization outcomes having contributed to the evolution/diversification of each superorder.

Influence of Lentinus edodes and Agaricus blazei extracts on the prevention of oxidation and retention of tocopherols in soybean oil in an accelerated storage test

This study aimed to evaluate the influence of the methanol extracts of mushrooms Lentinus edodes and Agaricus blazei on the retention of tocopherols in soybean oil, when subjected to an accelerated storage test. The following treatments were subjected to an accelerated storage test in an oven at 60 A degrees C for 15 days: Control (soybean oil without antioxidants), TBHQ (soybean oil + 100 mg/kg of TBHQ), BHT (soybean oil + 100 mg/kg of BHT), L. edodes (soybean oil + 3,500 mg/kg of L. edodes extract) and A. blazei (soybean oil + 3,500 mg/kg of A. blazei extract). The samples were analyzed for tocopherols naturally present in soybean oil and mass gain. The results showed, the time required to reach a 0.5% increase in mass was 13 days for TBHQ and 15 days for A. blazei. The content of tocopherols for TBHQ was 457.50 mg/kg and the A. blazei, 477.20 mg/kg.

Implant-retained finger prosthesis with modified retention system

Background: Amputations affect both the physical and the psychological aspects of an individual, causing significant impact on self-esteem. The main causes of finger amputations are work-related accidents with dangerous machinery, road traffic accidents, and animal bites, as well as systemic diseases such as diabetes. This report aims to describe a simple technique for fabrication of implant-retained finger prosthesis with a modified base of the retention system.Case Description and Methods: The O-Ring retention system was used with a modified hexagon-shaped base and a metallic capsule adapted to the acrylic resin to attach the prosthesis to the implant.Findings and Outcomes: The prosthesis was made with silicone, and after osseointegration, it was installed without complications, leading to a patient satisfied with the end result and encouraged to return to social life.

Evolution of female urinary continence after physical therapy and associated factors

Background: Urinary incontinence (UI) is defined as any involuntary loss of urine that can influence the quality of life, personal hygiene and social interaction. The types of UI that most affect women are stress urinary incontinence, urge incontinence and mixed urinary incontinence. There are several risk factors that result in specific treatments. We aimed to investigate the evolution of female urinary continence after physical therapy intervention and its associated factors. Method: A retrospective cross-sectional study was conducted with 71 participants who were discharged from physiotherapy sector from August 2006 to April 2012 and met the inclusion criteria. Results: Among the studied variables, the number of sessions and completion of home pelvic floor exercises showed a significant association. The urinary continence appeared in 43.7% of the cases, and factors, performance of home exercises, and number of sessions showed a significant association. Conclusion: The number of sessions and completion of home pelvic floor exercises showed a significant relationship with each other.

Pre-extrusion aromatization of a soy protein isolate using volatile compounds and flavor enhancers: Effects on physical characteristics, volatile retention and sensory characteristics of extrudates

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Predictive Usefulness of Urinary Biomarkers for the Identification of Cyclosporine A-Induced Nephrotoxicity in a Rat Model

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

Undernutrition fetal programming: effects on kidney morphology, renal steroid and angiotensin receptors expression and urinary sodium excretion

Maternal undernutrition affects the foetal development, promoting renal alterations and adult hypertension. The present study investigates, in adult male rats, the effect of food restriction in utero on arterial blood pressure changes (AP), and its possible association with the number of nephrons, renal function and angiotensin II (AT1R/AT2R), glucocorticoid (GR) and mineralocorticoid (MCR) receptors expression. The daily food supply to pregnant rats was measured and one group (n=5) received normal quantity of food (NF) while the other group received 50% of that (FR50) (n=5). The AP was measured weekly. At 16 weeks of life, fractionator’s method was used to estimate glomeruli number in histological slices. The renal function was estimate by creatinine and lithium clearances. Blood and urine samples were collected to biochemical determination of creatinine, sodium, potassium and lithium. At 90th and 23rd days of life, kidneys were also processed to AT1R, AT2R, GR and MCR immunolocalization and for western blotting analysis. FR50 offspring shows a significant reduction in BW (FR50: 5.67 ± 0.16 vs. 6.84 ± 0.13g in NF, P<0.001) and increased AP from 6th to 12nd week (6thwk FR50: 149.1 ± 3.4 vs. 125.1 ± 3.2mmHg in NF, P<0.001and, 12ndwk FR50: 164.4 ± 4.9 vs. 144.0 ± 3.3 mmHg in NF, P=0.02). Expression of AT1R and AT2R were significantly decreased in FR50 (AT1, 59080 ± 2709 vs. 77000 ± 3591 in NF, P=0.05; AT2, 27500 ± 95.50 vs. 67870 ± 1509 in NF, P=0.001) while the expression of GR increased in FR50 (36090 ± 781.5 vs. 4446 ± 364.5 in NF, P=0.0007). The expression of MCR did not change significantly. We also verified a pronounced decrease in fractional urinary sodium excretion in FR50 offspring (0.03 ± 0.02 vs. 0.06 ± 0.04 in NF, p=0.03). This occurred despite unchanged creatinine clearance. The study led us to suggest that fetal undernutrition, with increased fetal exposure... (Complete abstract click electronic access below)