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257 result(s) for "Reis, Alessandra"
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Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders
Genetic disorders of the skeleton comprise a large group of more than 450 clinically distinct and genetically heterogeneous diseases associated with mutations in more than 300 genes. Achieving a definitive diagnosis is complicated due to the genetic heterogeneity of these disorders, their individual rarity and their diverse radiographic presentations. We used targeted exome sequencing and designed a 1.4 Mb panel for simultaneous testing of more than 4,800 exons in 309 genes involved in skeletal disorders. DNA from 69 individuals from 66 families with a known or suspected clinical diagnosis of a skeletal disorder was analyzed. Of 36 cases with a specific clinical hypothesis with a known genetic basis, mutations were identified for eight cases (22%). Of 20 cases with a suspected skeletal disorder but without a specific diagnosis, four causative mutations were identified. Also included were 11 cases with a specific skeletal disorder but for which there was at the time no known associated gene. For these cases, one mutation was identified in a known skeletal disease genes, and re-evaluation of the clinical phenotype in this case changed the diagnoses from osteodysplasia syndrome to Apert syndrome. These results suggest that the NGS panel provides a fast, accurate and cost-effective molecular diagnostic tool for identifying mutations in a highly genetically heterogeneous set of disorders such as genetic skeletal disorders. The data also stress the importance of a thorough clinical evaluation before DNA sequencing. The strategy should be applicable to other groups of disorders in which the molecular basis is largely known.
Bacterial Community Associated with Healthy and Diseased Reef Coral Mussismilia hispida from Eastern Brazil
In order to characterize the bacterial community diversity associated to mucus of the coral Mussismilia hispida, four 16S rDNA libraries were constructed and 400 clones from each library were analyzed from two healthy colonies, one diseased colony and the surrounding water. Nine bacterial phyla were identified in healthy M. hispida, with a dominance of Proteobacteria, Actinobacteria, Acidobacteria, Lentisphaerae, and Nitrospira. The most commonly found species were related to the genera Azospirillum, Hirschia, Fabibacter, Blastochloris, Stella, Vibrio, Flavobacterium, Ochrobactrum, Terasakiella, Alkalibacter, Staphylococcus, Azospirillum, Propionibacterium, Arcobacter, and Paenibacillus. In contrast, diseased M. hispida had a predominance of one single species of Bacteroidetes, corresponding to more than 70% of the sequences. Rarefaction curves using evolutionary distance of 1% showed a greater decrease in bacterial diversity in the diseased M. hispida, with a reduction of almost 85% in OTUs in comparison to healthy colonies. ∫-Libshuff analyses show that significant p values obtained were <0.0001, demonstrating that the four libraries are significantly different. Furthermore, the sympatric corals M. hispida and Mussismilia braziliensis appear to have different bacterial community compositions according to Principal Component Analysis and Lineage-specific Analysis. Moreover, lineages that contribute to those differences were identified as α-Proteobacteria, Bacteroidetes, and Firmicutes. The results obtained in this study suggest host-microbe co-evolution in Mussismilia, and it was the first study on the diversity of the microbiota of the endemic and endangered of extinction Brazilian coral M. hispida from Abrolhos bank.
Angiotensin-(1-7) Promotes Resolution of Neutrophilic Inflammation in a Model of Antigen-Induced Arthritis in Mice
Defective resolution of inflammation may be crucial for the initiation and development of chronic inflammatory diseases, such as arthritis. Therefore, it has been suggested that therapeutic strategies based on molecules that facilitate inflammation resolution present great potential for the treatment of chronic inflammatory diseases. In this study, we investigated the effects and role of angiotensin-(1-7) [Ang-(1-7)] in driving resolution of neutrophilic inflammation in a model of arthritis. For this purpose, male C57BL/6 mice were subjected to antigen-induced arthritis and treated with Ang-(1-7) at the peak of the inflammatory process. Analysis of the number of inflammatory cells, apoptosis, and immunofluorescence for NF-κB was performed in the exudate collected from the knee cavity. Neutrophil accumulation in periarticular tissue was measured by assaying myeloperoxidase activity. Apoptosis of human neutrophil after treatment with Ang-(1-7) was evaluated morphologically and by flow cytometry, and NF-κB phosphorylation by immunofluorescence. Efferocytosis was evaluated . Therapeutic treatment with Ang-(1-7) at the peak of inflammation promoted resolution, an effect associated with caspase-dependent neutrophils apoptosis and NF-κB inhibition. Importantly, Ang-(1-7) was also able to induce apoptosis of human neutrophils, an effect associated with NF-κB inhibition. The pro-resolving effects of Ang-(1-7) were inhibited by the Mas receptor antagonist A779. Finally, we showed that Ang-(1-7) increased the efferocytic ability of murine macrophages. Our results clearly demonstrate that Ang-(1-7) resolves neutrophilic inflammation acting in two key step of resolution: apoptosis of neutrophils and their removal by efferocytosis. Ang-(1-7) is a novel mediator of resolution of inflammation.
Thermodynamic Analysis of Low-Emission Offshore Gas-to-Wire Firing CO2-Rich Natural Gas: Aspects of Carbon Capture and Separation Systems
Despite the growth of renewable energy, fossil fuels dominate the global energy matrix. Due to expanding proved reserves and energy demand, an increase in natural gas power generation is predicted for future decades. Oil reserves from the Brazilian offshore Pre-Salt basin have a high gas-to-oil ratio of CO2-rich associated gas. To deliver this gas to market, high-depth long-distance subsea pipelines are required, making Gas-to-Pipe costly. Since it is easier to transport electricity through long subsea distances, Gas-to-Wire instead of Gas-to-Pipe is a more convenient alternative. Aiming at making offshore Gas-to-Wire thermodynamically efficient without impacting CO2 emissions, this work explores a new concept of an environmentally friendly and thermodynamically efficient Gas-to-Wire process firing CO2-rich natural gas (CO2 > 40%mol) from high-depth offshore oil and gas fields. The proposed process prescribes a natural gas combined cycle, exhaust gas recycling (lowering flue gas flowrate and increasing flue gas CO2 content), CO2 post-combustion capture with aqueous monoethanolamine, and CO2 dehydration with triethylene glycol for enhanced oil recovery. The two main separation processes (post-combustion carbon capture and CO2 dehydration) have peculiarities that were addressed at the light shed by thermodynamic analysis. The overall process provides 534.4 MW of low-emission net power. Second law analysis shows that the thermodynamic efficiency of Gas-to-Wire with carbon capture attains 33.35%. Lost-Work analysis reveals that the natural gas combined cycle sub-system is the main power destruction sink (80.7% Lost-Work), followed by the post-combustion capture sub-system (14% Lost-Work). These units are identified as the ones that deserve to be upgraded to rapidly raise the thermodynamic efficiency of the low-emission Gas-to-Wire process.
Color evaluation of a one-shade used for restoration of non-carious cervical lesions: an equivalence randomized clinical trial
Background Obtaining a perfect color match with resin composite presents a significant challenge. The chameleon effect has enabled resin composite to mimic the color of the adjacent tooth structure in vitro. This double-blind, split-mouth and equivalent randomized clinical trial evaluated the color matching of one-shade resin composite with chameleon effect versus multi-shade resin composite in non-carious cervical lesion restorations (NCCLs). Methods One hundred twenty restorations were performed on NCCLs with two restorative materials ( n  = 60). After prophylaxis, the teeth were isolated with rubber dam and one universal adhesive was applied in the selective enamel etching strategy. For both groups, the restorations were inserted incrementally. The values of ΔE ab and ΔE 00 in the cervical and middle third were evaluated using a digital spectrophotometer before vs. after the restorations. The restorations were evaluated at baseline and after 7 days, 6-, 12- and 18-month of clinical performance according to the FDI criteria (Word Federation Criteria). Statistical analysis was performed using Chi-square test for all parameters. Color change was analyzed by two one-sided t-tests for paired samples (α = 0.05). Results Regarding the color measurement no significant difference was observed when Vittra APS (FGM Dental Products, Joinville, SC, Brazil) was compared to Vittra Unique (FGM Dental Products, Joinville, SC, Brazil) for any of the comparisons performed ( p  > 0.05). However, the ΔE ab and ΔE 00 values for the cervical third, both before and after the restorations, were higher compared to the ΔE ab and ΔE 00 values observed when comparing the cervical and middle thirds after the restorations. After 18 months, five restorations exhibited minimal discrepancies in terms of marginal adaptation or marginal discoloration ( p  > 0.05). In all other criteria, including retention rate, no changes were detected at the 18-month recall. Conclusions The one-shade resin composite used achieve the same color match when compared to a multi-shade resin composite after a period of 7 days in NCCLs. Overall, the restorations scored clinically very good (FDI) at baseline and after 18 months for all outcomes. Clinical Significance The use of a one-shade resin composite in NCCLs can be recommended because it has the ability to simplify the restoration procedure and maintaining an excellent clinical performance. Registration of clinical trials RBR-8txr4fw: 26/05/2022.
Personality traits, psychosocial effects and quality of life of patients submitted to dental bleaching
Background Perception is defined as the ability to distinguish through the senses. All perception is dependent on factors such as personality, previously lived experiences and cultural elements. When planning an aesthetic treatment, consider the way the patients perceive the changes and outcomes is essential for reaching their expectations. The objective of this study was to assess if there was predominance of a personality trait of patient undergoing dental bleaching and if this treatment could promote changes in this traits, in the psychosocial impact and quality of life of these individuals. Methods The assessment of personality characteristics, quality of life, psychosocial and self-perception was a cross-sectional observational study and it was carried out by applying questionnaires to 55 patients that were submitted to a clinical phase. The psychometric instruments used were NEO FFI-R (personality), PIDAQ (psychosocial effect) and WHOQOL-BREF (quality of life). Each test domain was prior and after bleaching by Wilcoxon Signed Rank test (α = 0.05). The internal consistencies of each scale were evaluated by Cronbach's alpha. Results No statistical significant differences among personality traits means were observed among participants but there was predominance of two predominant personality traits in this study: conscientiousness (45.5%) and extraversion (34.5%). In four test domains of the PIDAQ, significant differences were observed before and after dental bleaching. The overall perception of the PIDAQ was also statistically significant demonstrating an improvement. There were no differences on overall or specific domains scores of the WHOQOL before and after treatment. Conclusions Subjects who underwent dental treatment improved their self-confidence and reduced concerns about dental aesthetics, social and personality impact of dental alterations. Trial registration This study was conducted in parallel to a clinical investigation that aimed to evaluate tooth sensitivity related to dental bleaching technique and registered in REBEC clinical registry under protocol RBR-6pt2n3 in 13 November 2013.
Does smoking habit increase the micronuclei frequency in the oral mucosa of adults compared to non-smokers? A systematic review and meta-analysis
ObjectivesA systematic review of clinical studies to evaluate the frequency of micronuclei in the oral mucosa of smokers and non-smokers in adult patients was performed.Materials and methodsA comprehensive search was carried out on MEDLINE via PubMeb, Scopus, Web of Science, LILACS, BBO, and Cochrane Library and SIGLE without restrictions. Dissertations and thesis were searched using the ProQuest Dissertations and Periodicos Capes Thesis Databases. We included only cross-sectional clinical trials that compared the frequency of micronuclei in the oral mucosa of smokers and non-smokers in adult patients.DataAfter the removal of duplicates, 1338 articles were identified. After title and abstract screening, 35 studies remained. Eighteen studies were further excluded, whereas 17 studies remained for qualitative analysis and 16 for the meta-analysis of the primary and secondary outcomes. A significant difference in the frequency of micronuclei in smokers when compared to non-smokers was observed in the present study.ConclusionsDespite the high variation in the methodology of the assessed studies, this study showed a higher frequency of micronuclei in exfoliated cells of smokers compared to non-smokers.Clinical significanceThe use of tobacco is associated with cytotoxic and genotoxic effects because a higher frequency of micronuclei in exfoliated cells of smokers was observed.
Effect of gingival barrier brands on operator perception, cervical adaptation, and patient comfort during in-office tooth bleaching: a randomized clinical trial
Background Light-cured resins are widely used as gingival barriers to protect the gums from highly concentrated peroxides used in tooth bleaching. The impact of barrier brand on clinical outcomes is typically considered negligible. However, there is limited evidence on the effects of different brands on operator experience, barrier adaptation, and patient comfort. Objective This clinical trial assessed the impact of four commercial gingival barrier brands (Opaldam, Topdam, Lysadam, and Maxdam) on operator perception, adaptation quality, and patient comfort. Methods Twenty-one undergraduate students placed gingival barriers in a randomized sequence using blinded syringes. Photographs of the barriers were taken from frontal and incisal perspectives. After bleaching procedures, operators rated handling features and safety using Likert scale forms. Two experienced evaluators independently assessed barrier adaptation quality on a scale from 1 (perfect) to 5 (unacceptable). The absolute risk of barrier-induced discomfort was recorded. Data were analyzed using Friedman and Chi-square tests (α = 0.05). Results Opaldam and Topdam received the highest scores in most handling features, except for removal, which was similar among all brands. No significant difference was observed in barrier adaptation quality between the evaluated brands. Discomforts were mainly reported in the upper dental arch, with Maxdam having the highest absolute risk (35% for this arch and 24% overall). Conclusions This study suggests that gingival barrier brands can influence operator perception and patient comfort. Opaldam and Topdam were preferred by operators, but all brands demonstrated comparable adaptation quality. Clinical trial registration The study was nested in a randomized clinical trial registered in the Brazilian Clinical Trials Registry under identification number RBR-9gtr9sc.
Immunogenicity of Clostridium perfringens epsilon toxin recombinant bacterin in rabbit and ruminants
•Inactivated recombinant E. coli expressing rETX (recombinant bacterin).•Non-purified vaccine induced protective immunity in rabbits, sheep and cattle.•Recombinant vaccines are produced using a safe, simpler and faster production process.•Production process requires no steps of lysis, purification and refolding.
Supercritical Direct-Methane-to-Methanol Coupled with Gas-to-Wire for Low-Emission Offshore Processing of CO2-Rich Natural Gas: Techno-Economic and Thermodynamic Analyses
A greater H/C ratio and energy demand are factors that boost natural gas conversion into electricity. The Brazilian offshore pre-salt basin has large reserves of CO2-rich associated gas. Selling this gas requires high-depth long-distance subsea pipelines, making gas-to-pipe costly; in particular, gas-to-wire instead of gas-to-pipe is more practical since it is easier to transmit electricity via long subsea distances. This research proposes and investigates an innovative low-emission gas-to-wire alternative consisting of installing supercritical direct-methane-to-methanol upstream to gas-to-wire, which is embedded in an exhaust-gas recycle loop that reduces the subsequent carbon capture costs. The process exports methanol and electricity from remote offshore oil-and-gas fields with available CO2-rich natural gas, while capturing CO2. Techno-economic, thermodynamic and lost work analyses assess the alternative. Supercritical direct-methane-to-methanol is conducted in supercritical water with air. This route is chosen because supercritical water readily dissolves methanol and CO2, helping to preserve methanol via stabilization against further oxidation by gaseous air. Besides being novel, this process has intensification since it implements exhaust-gas recycle for –flue-gas reduction, CO2 abatement via post-combustion capture with aqueous monoethanolamine, CO2 dehydration with triethylene glycol and CO2 densification for enhanced oil recovery. The process is fed with 6.5 MMS m3/d of CO2-rich natural gas (CO2 > 40%mol) exporting methanol (2.2 t/h), electricity (457.1 MW) and dense CO2 for enhanced oil recovery, with an investment of 1544 MMUSD, 452 MMUSD/y in manufacturing costs and 820 MMUSD/y in revenues, reaching 1021 MMUSD net present value (50 years) and a 10 year payback time. The Second Law analysis reveals overall thermodynamic efficiency of 28%. The lost work analysis unveils the gas-combined-cycle sub-system as the major lost work sink (76% lost work share), followed by the post-combustion capture plant (14% lost work share), being the units that prominently require improvements for better economic and environmental performance. This work demonstrates that the newly proposed process is techno-economically feasible, environmentally friendly, thermodynamically efficient and competitive with the gas-to-wire processes in the literature.