Optimization conditions of UV-C radiation combined with ultrasound-assisted extraction of cherry tomato (Lycopersicon esculentum) lycopene extract

The aim of this work was to study the effect of UV-C radiation on ultrasound assisted extraction (UAE) of cherry tomato bioactive compounds. Cherry tomatoes were exposed to two UV-C radiation doses (0.5 and 1.0 J cm−2 ) and stored at 20 ± 0.5 oC for 7 days. Next, they were lyophilized, and the bioactive compounds were extracted by UAE at 20 KHz. To evaluate the effectiveness of the extraction process of the bioactive compounds, a CCRD (central composite rotational design) was used together with RSM (response surface methodology), for extraction times from 4 to 12 minutes and concentrations (g of lyophilized product / L of ethanol) of 1:10, 1:20 and 1:30. The extracts obtained from the irradiated tomatoes presented 5.8 times more lycopene content than the controls and higher antioxidant activity was obtained for 4 and 8 min, in the concentrations 1:10 and 1:20 (m v−1). Through numerical model optimization, optimal extraction conditions were obtained. The results demonstrated that by previously irradiating tomatoes with UV-C light, the UAE yielded considerably higher amounts of lycopene and other bioactives.CNPq (National Council of Technological and Scientific Development, Brazil), Erasmus Mundus action 2; Fellow Mundus Project; Department of Chemical Engineering and Food Engineering (UFSC - Brazil) and the Department of Food Engineering (UAlg - Portugal) .info:eu-repo/semantics/publishedVersio

X-linked genodermatoses from diagnosis to tailored therapy

Background: Genodermatoses are rare heterogeneous genetic skin diseases with multiorgan involvement. They severely impair an individual's well-being and can also lead to early death. Methods: During the progress of this review, we have implemented a targeted research approach, diligently choosing the most relevant and exemplary articles within the subject matter. Our method entailed a systematic exploration of the scientific literature to ensure a compre-hensive and accurate compilation of the available sources. Results: Among genodermatoses, X-linked ones are of particular importance and should always be considered when pediatric males are affected. Regardless of other syndromic forms without prevalence of skin symptoms, X-linked genodermatoses can be classified in three main groups: keratinization defects, pigmentation defects, and inflammatory skin diseases. Typical examples are dyskeratosis congenita, keratosis follicularis spinulosa decalvans, hypohidrotic ectodermal dysplasia, chondrodysplasia punctata, hypohidrotic ectodermal dysplasia, incontinentia pigmenti, chronic granulomatous disease, CHILD syndrome and ichthyosis. In this field, genetic diagnosis of the specific disease is important, also considering that numerous clinical trials of orphan drugs and genetic therapies are being proposed for these rare genetic diseases. Conclusions: Thus, this chapter starts from clinical to molecular testing and ends with a review of all clinical trials on orphan drugs and gene therapy for genodermatoses

UnderMine Text Miner – Uma Ferramenta de Mineração de Texto para Área Educacional

Este artigo apresenta um sistema de mineração de textos, denominado UnderMine Text Miner, que utiliza algoritmos embasados nas metodologias imunológicas. O UnderMine Text Miner opera basicamente dois processos. No primeiro processo de treinamento, o sistema é executado sucessivamente a fim de apreender palavras que contextualizam textos lidos para cada área de estudo informada pelo usuário. No segundo processo de classificação, o sistema analisa um novo texto e o classifica segundo as áreas de estudo aprendidas no primeiro processo. Para finalizar, o artigo descreve experimentos preliminares realizados e exemplos

3D-printed Franz cells - update on optimization of manufacture and evaluation

OBJECTIVES: Laboratory in vitro permeation processes require the use of modified Franz type diffusion cells which are conventionally fabricated from glass. Fragility and high cost are frequently associated with this type of laboratory apparatus. The purpose of our present research was to develop a simple, economical and versatile approach to manufacture Franz type cells using additive manufacturing (AM). METHODS: Graphical Franz diffusion cell designs were reproduced with a stereolithography (SLA) 3D printer and assessed over a minimum period of 24 h. The surface morphology of AM printouts was analysed before and after compatibility studies using scanning electron microscopy (SEM). Comparative permeation studies in both glass and AM Franz type diffusion cells were conducted using a caffeine solution (1.5 mg mL‑1), applied to a model silicone membrane. RESULTS: Testing of the 3D printed scaffolds confirmed similar recovery of the permeant when compared to glass cells: 1.49 ± 0.01 and 1.50 ± 0.01 mg mL‑1, respectively, after 72 h. No significant differences were visible from the SEM micrographs demonstrating consistent, smooth and non-porous surfaces of the AM Franz cells’ core structure. Permeation studies using transparent 3D printed constructs resulted in 12.85 ± 0.53 μg cm ‑2 caffeine recovery in the receptor solution after 180 min with comparable permeant recovery, 11.49 ± 1.04 μg cm ‑2, for the glass homologues. CONCLUSION: AM constructs can be considered as viable alternatives to the use of conventional glass apparatus offering a simple, reproducible and cost-effective method of replicating specialised laboratory glassware. A wider range of permeants will be investigated in future studies with these novel 3D printed Franz diffusion cells

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants

Sequencing of the low-complexity ORF15 exon of RPGR, a gene correlated with retinitis pigmentosa and cone dystrophy, is difficult to achieve with NGS and Sanger sequencing. False results could lead to the inaccurate annotation of genetic variants in dbSNP and ClinVar databases, tools on which HGMD and Ensembl rely, finally resulting in incorrect genetic variants interpretation. This paper aims to propose PacBio sequencing as a feasible method to correctly detect genetic variants in low-complexity regions, such as the ORF15 exon of RPGR, and interpret their pathogenicity by structural studies. Biological samples from 75 patients affected by retinitis pigmentosa or cone dystrophy were analyzed with NGS and repeated with PacBio. The results showed that NGS has a low coverage of the ORF15 region, while PacBio was able to sequence the region of interest and detect eight genetic variants, of which four are likely pathogenic. Furthermore, molecular modeling and dynamics of the RPGR Glu-Gly repeats binding to TTLL5 allowed for the structural evaluation of the variants, providing a way to predict their pathogenicity. Therefore, we propose PacBio sequencing as a standard procedure in diagnostic research for sequencing low-complexity regions such as RPGRORF15, aiding in the correct annotation of genetic variants in online databases

Taming the snake in paradise: combining institutional design and leadership to enhance collaborative innovation

The growing expectations to public services and the pervasiveness of wicked problems in times characterized by growing fiscal constraints call for the enhancement of public innovation, and new research suggests that multi-actor collaboration in networks and partnerships is superior to hierarchical and market-based strategies when it comes to spurring such innovation. Collaborative innovation seems ideal as it builds on diversity to generate innovative public value outcomes, but there is a catch since diversity may clash with the need for constructing a common ground that allows participating actors to agree on a joint and innovative solution. The challenge for collaborative innovation – taming the snake in paradise – is to nurture the diversity of views, ideas and forms of knowledge while still establishing a common ground for joint learning. While we know a great deal about the dynamics of the mutually supportive processes of collaboration, learning and innovation, we have yet to understand the role of institutional design and leadership in spurring collaborative innovation and dealing with this tension. Building on extant research, the article draws suitable cases from the Collaborative Governance Data Bank and uses Qualitative Comparative Analysis to explore how multiple constellations of institutional design and leadership spur collaborative innovation. The main finding is that, even though certain institutional design features reduce the need for certain leadership roles, the exercise of hands-on leadership is more important for securing collaborative innovation outcomes than hands-off institutional design

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. De novo dominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategie

The Weyl double copy from twistor space

The Weyl double copy is a procedure for relating exact solutions in biadjoint scalar, gauge and gravity theories, and relates fields in spacetime directly. Where this procedure comes from, and how general it is, have until recently remained mysterious. In this paper, we show how the current form and scope of the Weyl double copy can be derived from a certain procedure in twistor space. The new formalism shows that the Weyl double copy is more general than previously thought, applying in particular to gravity solutions with arbitrary Petrov types. We comment on how to obtain anti-self-dual as well as self-dual fields, and clarify some conceptual issues in the twistor approach