Simultaneous Papillary Carcinoma in Thyroglossal Duct Cyst and Thyroid

Thyroglossal duct cyst (TDC) is a cystic expansion of a remnant of the thyroglossal duct tract. Carcinomas in the TDC are extremely rare and are usually an incidental finding after the Sistrunk procedure. In this report, an unusual case of a 36-year-old woman with concurrent papillary thyroid carcinoma arising in the TDC and on the thyroid gland is presented, followed by a discussion of the controversies surrounding the possible origins of a papillary carcinoma in the TDC, as well as the current management options

A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems

<p>Abstract</p> <p>Background</p> <p>Recent medical and biological technology advances have stimulated the development of new testing systems that have been providing huge, varied amounts of molecular and clinical data. Growing data volumes pose significant challenges for information processing systems in research centers. Additionally, the routines of genomics laboratory are typically characterized by high parallelism in testing and constant procedure changes.</p> <p>Results</p> <p>This paper describes a formal approach to address this challenge through the implementation of a genetic testing management system applied to human genome laboratory. We introduced the Human Genome Research Center Information System (CEGH) in Brazil, a system that is able to support constant changes in human genome testing and can provide patients updated results based on the most recent and validated genetic knowledge. Our approach uses a common repository for process planning to ensure reusability, specification, instantiation, monitoring, and execution of processes, which are defined using a relational database and rigorous control flow specifications based on process algebra (ACP). The main difference between our approach and related works is that we were able to join two important aspects: 1) process scalability achieved through relational database implementation, and 2) correctness of processes using process algebra. Furthermore, the software allows end users to define genetic testing without requiring any knowledge about business process notation or process algebra.</p> <p>Conclusions</p> <p>This paper presents the CEGH information system that is a Laboratory Information Management System (LIMS) based on a formal framework to support genetic testing management for Mendelian disorder studies. We have proved the feasibility and showed usability benefits of a rigorous approach that is able to specify, validate, and perform genetic testing using easy end user interfaces.</p

Optimization of lipase production by Aspergillus ibericus from oil cakes and its application in esterification reactions

Due to the actual emphasis in revalorization of agro-industrial wastes and cost reduction of enzymes production, this work aimed the optimization of lipase production from different oil cakes (OCs) produced in Brazil, by solid-state fermentation using Aspergillus ibericus MUM 03.49 and the application of the produced lipase in hydrolysis and esterification reactions. Results presented showed higher lipase production using palm kernel oil cake (PKOC), yielding 127 ± 17 U/g. Through SSF optimization, using palm kernel oil cake (PKOC) mixed with sesame oil cake (SOC) in a ratio of 0.45 g/g PKOC per g total substrate at 57% moisture content, a production of 460 ± 38 U/g of lipase per mass of dry substrate was obtained after 6 days of fermentation. The obtained lipase was used in hydrolysis reactions, where it was observed higher production in short-chain triacylglycerols (TAGs) substrates. Also, it was applied in esterification reactions, where the formation of butyl decanoate using 5% (w/v) of biocatalyst was the most efficient. SSF of PKOC and SOC was a low cost competitive process to obtain A. ibericus lipase that can be used in aroma esters production, with application in the food industry.Felisbela Oliveira acknowledges the financial support from FAPERJ N° 43/2013—Programa de Apoio ao Doutorado-Sanduíche Reverso—2013, from Rio de Janeiro, Brazil and from the Portuguese Foundation for Science and Technology (FCT), through the grant SFRH/BD/87953/2012. José Manuel Salgado was supported by grant CEB/N2020 – INV/01/2016 from Project “BIOTECNORTE - Underpinning Biotechnology to foster the north of Portugal bioeconomy” (NORTE-01-0145-FEDER-000004). This study was supported by the Portuguese Foundation for Science and Technology (FCT) under the scope of the strategic funding of UID/BIO/04469/2013 unit and COMPETE 2020 (POCI-01-0145-FEDER-006684) and BioTecNorte operation (NORTE-01-0145-FEDER-000004) funded by the European Regional Development Fund under the scope of Norte2020 - Programa Operacional Regional do Norte. Carlos E. Souza and Verônica R.O.L. Peclat thank the financial support given by CNPq and CAPES from Brazil, respectively. Bernardo D. Ribeiro and Maria A.Z. Coelho thank the financial support given by CNPq and FAPERJ from Brazil

Lipase production by Aspergillus ibericus using oil cakes and its application in esterification reactions

Large amounts of excess plant biomass are produced by agroindustries. Biotechnological innovations, mainly in the fermentation technology, have opened new areas for utilization of oil cakes as raw materials for the production of value added products. Oil cakes have been used as substrates in solid-state fermentation (SSF) for the enzymes production by filamentous fungi. This work deals with the optimisation of fermentation conditions which maximise the production of lipase from Aspergillus ibericus MUM 03.49 under SSF using different oil cakes from Brazil. Combinations of oil cakes, moisture content (MC) and nitrogen sources were studied. Finally, the obtained lipase was applied in esterification reactions with different carboxylic acids and alcohols. SSFs were performed in 250 mL containing 15 g of oil cake. After lipase extraction, lipase activity was determined by spectrophotometric method, using p-nitrophenyl butyrate as substrate. Esterification reactions were performed in 15 mL falcon tubes with 5 mL volume reaction. Conversion yield was determined by the titration of the residual acid content, using 0.1 M sodium hydroxide. Lipase production was significantly influenced by the oil cake used. Palm kernel oil cake (PKOC) presented higher lipase production (127 ± 17 U/g), following by sesame oil cake (SOC) (78 ± 2 U/g), after 7 days of SSF. The combination of oil cakes PKOC+SOC led to maximum lipase production of 328 ± 6 U/g. Also, on PKOC+CrOC (crambe oil cake) it was possible to obtain high lipase activity (272 ± 23 U/g). A central composite design was performed to set optimum MC and ratio of PKOC+SOC. A MC of 57% and a ratio of 0.45:0.55 PKOC:SOC were determined predicting a lipase production of 360 U/g. NH4Cl was found to be the best nitrogen source at concentration of 1% (w/w). From the profile of lipase production over fermentation time, it was observed a continuous enzyme activity increase till the 6th day, reaching 460 ± 38 U/g, corresponding to a productivity of 3.2 ± 0.3 U/(g h); and stabilizing till the end of 20 days, yielding 578 ± 20 U/g. Finally, the whole fermented cake with lipase was lyophilized and applied in esterification reactions, combining different carboxylic acids with alcohols. A 100% conversion yield was obtained for decanoic acid with butanol using 20% (w/w) lipase. Optimisation process led to the use of 5% lipase in universal buffer at pH 7 or 8, for 24 h at 37 ºC, to obtain butyl decanoate ester. The biotechnological valorisation of SSF combining oil cakes is an interesting strategy to produce considerable amounts of lipase. Further, lipase produced may be applied to produce butyl decanoate ester, a natural flavor with interest for food industry

Functional profiling of single CRISPR/Cas9-edited human long-term hematopoietic stem cells.

In the human hematopoietic system, rare self-renewing multipotent long-term hematopoietic stem cells (LT-HSCs) are responsible for the lifelong production of mature blood cells and are the rational target for clinical regenerative therapies. However, the heterogeneity in the hematopoietic stem cell compartment and variable outcomes of CRISPR/Cas9 editing make functional interrogation of rare LT-HSCs challenging. Here, we report high efficiency LT-HSC editing at single-cell resolution using electroporation of modified synthetic gRNAs and Cas9 protein. Targeted short isoform expression of the GATA1 transcription factor elicit distinct differentiation and proliferation effects in single highly purified LT-HSC when analyzed with functional in vitro differentiation and long-term repopulation xenotransplantation assays. Our method represents a blueprint for systematic genetic analysis of complex tissue hierarchies at single-cell resolution

Intestinal anti-inflammatory effects of goat whey on DNBS-induced colitis in mice

This study evaluated the intestinal anti-inflammatory effects of goat whey in a mouse model of colitis induced by 2,4-dinitrobenzenesulfonic acid that resembles human IBD. At a concentration of 4 g/kg/day, the goat whey improved the symptoms of intestinal inflammation, namely by decreasing the disease activity index, colonic weight/length, and leukocyte infiltration. Moreover, goat whey inhibited NF-kappa B p65 and p38 MAPK signaling pathways and consequently down-regulated the gene expression of various proinflammatory markers such as IL-1 beta, IL-6, IL-17, TNF-alpha, iNOS, MMP-9, ICAM-1. Also, goat whey increased the expression of proteins such as mucins, occludin proteins and cytokine signalling suppressors. The immunomodulatory properties of goat whey were also evaluated in vitro using the murine macrophage cell line Raw 264 and CMT-93 cells derived from mouse rectum carcinomas. The results revealed the ability of goat whey to inhibit the production of NO and reduce IL-6 production in LPS-stimulated cells. In conclusion, goat whey exhibited antiinflammatory effects in the DNBS model of intestinal inflammation, and these observations were confirmed by its immunomodulatory properties in vitro. Together, our results indicate that goat whey could have applications for the treatment of IBD.info:eu-repo/semantics/publishedVersio

Association between socioeconomic factors and origin of hospital referrals among patients with oral cancer

The Brazilian Unified Health System (SUS) is responsible for offering free assistance to more than 100 million Brazilians, including treatment of oral cancer lesions. Considering that the Brazilian public system aids the most vulnerable population, this study analyzed whether the origin of hospital referrals of patients with oral cancer is associated with socioeconomic factors. A cross-sectional study was carried out from cancer hospital records of the National Cancer Institute (RHC-INCA), considering the primary locations (C00 to C06) diagnosed between 2016 and 2019. Data on gender, skin color (white and non-white), education (no schooling, incomplete or complete elementary education; high school; incomplete and complete higher education) and origin of referral (SUS and non-SUS) were analyzed by multiple logistic regression (p<0.05). Higher referral rates by the SUS were observed in 2017 (OR=1.27; 95% CI=1.098-1.480) and 2018 (OR=1.28; 95% CI=1.101-1.490); no differences were found between the years 2016 and 2019. Regarding gender, men were 40% more likely to have the SUS as the source of referral (OR=1.40; 95% CI=1.233-1.600). Non-white individuals were 34% more likely to have the SUS as the source of the referral (OR=1.34; 95% CI=1.190-1.512). Illiterate individuals or individuals who only attended elementary school were 6.38 times more likely to be referred by the SUS than individuals with higher education (OR=6.38; 95% CI=5.228-7.796). It is concluded that the origin of hospital referrals via SUS of patients with oral cancer is associated with socioeconomic factors