Co-Design: digital tools for knowledge-building and decision-making in planning and design = Co-Progetto: strumenti digitali per la costruzione della conoscenza e il supporto alle decisioni nella progettazione collaborativa

L’utilizzo di strumenti digitali, oggi ampiamente diffuso nei processi progettuali, ha aperto enormi possibilità operative non solo per gli aspetti specializzati, ma anche per sviluppare forme di progettazione collaborativa e partecipata. Con questa strumentazione l’esplorazione di soluzioni alternative, dalla pianificazione alla scala territoriale ed ambientale fino alla progettazione alla scala dell’oggetto edilizio ed architettonico, potenzialmente diventa più rapida e di più agevole comprensione e valutazione. Queste potenzialità rendono ora importanti, per una realizzazione ancor più̀ efficace dei progetti alle varie scale, la definizione e l’implementazione di requisiti di interoperabilità (non solo di formati!) che ottimizzino l’integrazione delle informazioni fra i vari settori progettuali. Si vuole con questa tematica di co-design favorire non solo l’indagine sulla costruzione del progetto alle varie scale (in questo caso quella ambientale ed urbana), ma anche centrare l’attenzione sul carattere specifico del Disegno progettuale, che deve poter rappresentare una “interfaccia comunicativa” completa e comprensibile per tutti i soggetti coinvolti nel processo.Digital tools for design process, nowadays extensively popular, opened enormous operational possibilities, not only for technical practices, but also to collaborative and participatory design. Through these technological innovations, from urban planning and environmental design applications to the practice of architecture, exploration of alternative solutions is potentially faster being also potentially effective and easier understand and assess processes. In order to create more effective design workflows at different scales, this capability requires the definition and the implementation of interoperability (not limited to setting formats!) that optimizes the integration of information among the various project sectors. Within this framework of co-design it is expected to highlight not only research and practice related to building at different scales (environmental and urban process), but also to focus on the specific character of drawing applications, which should be able to present an understandable "communicative interface" for everyone involved

GJB2: Frequency of the less common variants in a sample of the Portuguese population

Introduction: Sequence variants in the GJB2 gene account for up to 50% of cases of non-syndromic sensorineural hearing loss in the Caucasian population. In this study, we report the frequency of the less common variants of the GJB2 gene in a Portuguese sample and compare these frequencies with those of a group of hearing-impaired patients. Material and Methods: In order to select the less common GJB2 variants, 147 hearing-impaired patients followed in Centro Hospitalar Universitário de São João were evaluated. Afterwards, the presence of those variants was tested in 360 individuals from Generation 21. Results: The patient assessment enabled the selection of 11 GJB2 variants. Of those, 10 were investigated in Generation 21 participants, with only four being detected, in heterozygosity: p.Phe83Leu, p.Arg127His, p.Val153Ile and p.Asn206Ser, with the allelic frequencies (95% confidence interval) of 0.14% (0.01% - 0.87%), 0.28% (0.01% - 1.08%), 0.97% (0.43% - 2.04%) and 0.14% (0.01% - 0.88%), respectively. Two variants, p.Val37Ile and p.Val95Met, were more frequent in the patients’ group with statistical significance. Discussion: Our results allow for the p.Arg127His and p.Val153Ile variants to comply with polymorphism criteria and support the pathogenicity of p.Val37Ile and p.Val95Met variants. Moreover, two cases of moderate hearing loss were explained by the p.Val37Ile/p. Asn206Ser genotype, substantiating both the pathogenicity of such variants and the hypothesis that compound heterozygosity with p.Ans206Ser is associated with mild-moderate genotypes. Conclusion: Understanding the role of the variants is essential in order to provide genetic counselling to patients and their families. We explored a set of uncommon GJB2 variants that comprised 12% of the hearing-impaired patients in this study, supporting the relevance of their description.Generation XXI was funded by Programa Operacional de Saúde – Saúde XXI, Quadro Comunitário de Apoio III and Administração Regional de Saúde Norte (Regional Department of Ministry of Health). This study was funded by FEDER through the Operational Programme Competitiveness and Internationalization and national funding from the Foundation for Science and Technology – FCT (Portuguese Ministry of Science, Technology and Higher Education) by the Unidade de Investigação em Epidemiologia – Instituto de Saúde Pública da Universidade do Porto (EPIUnit) (POCI-01-0145-FED-ER-006862; Ref. UID/DTP/ 04750/2013), and the Calouste Gulbenkian Foundation. Ana Cristina Santos holds an FCT Investigator contract IF/ 01060/2015. (POCI-01-0145-FEDER-016837)

Oxidative Stress, DNA, Cell Cycle/Cell Cycle Associated Proteins and Multidrug Resistance Proteins: Targets of Human Amniotic Membrane in Hepatocellular Carcinoma

The anticancer effects of human amniotic membrane (hAM) have been studied over the last decade. However, the action mechanisms responsible for these effects are not fully understood until now. Previously results reported by our team proved that hAM is able to induce cytotoxicity and cell death in hepatocellular carcinoma (HCC), a worldwide high incident and mortal cancer. Therefore, this experimental study aimed to investigate the cellular targets of hAM protein extracts (hAMPE) in HCC through in vitro studies. Our results showed that hAMPE is able to modify oxidative stress environment in all HCC cell lines, as well as its cell cycle. hAMPE differently targets deoxyribonucleic acid (DNA), P21, P53, β-catenin and multidrug resistance (MDR) proteins in HCC cell lines. In conclusion, hAMPE has several targets in HCC, being clear that the success of this treatment depends of a personalized therapy based on the biological and genetic characteristics of the tumor

The INOVMineral Project's Contribution to Mineral Exploration-A WebGIS Integration and Visualization of Spectral and Geophysical Properties of the Aldeia LCT Pegmatite Spodumene Deposit

Due to the current energetic transition, new geological exploration technologies are needed to discover mineral deposits containing critical materials such as lithium (Li). The vast majority of European Li deposits are related to Li-Cs-Ta (LCT) pegmatites. A review of the literature indicates that conventional exploration campaigns are dominated by geochemical surveys and related exploration tools. However, other exploration techniques must be evaluated, namely, remote sensing (RS) and geophysics. This work presents the results of the INOVMINERAL4.0 project obtained through alternative approaches to traditional geochemistry that were gathered and integrated into a webGIS application. The specific objectives were to: (i) assess the potential of high-resolution elevation data; (ii) evaluate geophysical methods, particularly radiometry; (iii) establish a methodology for spectral data acquisition and build a spectral library; (iv) compare obtained spectra with Landsat 9 data for pegmatite identification; and (v) implement a user-friendly webGIS platform for data integration and visualization. Radiometric data acquisition using geophysical techniques effectively discriminated pegmatites from host rocks. The developed spectral library provides valuable insights for space-based exploration. Landsat 9 data accurately identified known LCT pegmatite targets compared with Landsat 8. The user-friendly webGIS platform facilitates data integration, visualization, and sharing, supporting potential users in similar exploration approaches

Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples

Objective: To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients. Methods: 502 children were randomly selected among the 8647 participants of the Portuguese birth cohort Generation XXI, and screened for Met34Thr and 35delG variants in the GJB2 gene. These variants were also studied on 89 index-cases, observed in the Clinic of “Hereditary Hearing-loss” in Saint John's Hospital Center, presenting a mild to profound nonsyndromic hearing-loss. Results: Among the 502 children from Generation XXI, 10 were heterozygous for the 35delG variant (95% Confidence Interval 1.03–3.68) and 1 homozygous (95% Confidence Interval 0.01–1.24). Other 10 children presented heterozygosity for the Met34Thr variant (95% Confidence Interval 1.03–3.68). No homozygous for the Met34Thr or compound heterozygotes (35delG/Met34Thr) were found. In the total of 89 nonsyndromic hearing-loss patients, 5 (95% Confidence Interval 2.11–12.8) were heterozygous and 7 (95% Confidence Interval 3.61–15.6) were homozygous for the 35delG variant. The Met34Thr variant was found in 4 patients, 2 heterozygous (95% Confidence Interval 0.13–8.31) and 2 homozygous (95% Confidence Interval 0.13–8.31). Conclusion: The carrier frequency of 35delG and Met34Thr variants in a Portuguese sample was 1 in 50. Our data suggests that the 35delG mutation has an association with deafness. For the Met34Thr variant, no association was observed. However, Met34Thr seemed to conform to an additive model in hearing-loss

Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patients

OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families

Macular Edema Secondary to Retinal Vein Occlusion in a Real-Life Setting: a Multicenter, Nationwide, 3-Year Follow-Up Study

Purpose: To evaluate the presence of macular edema secondary to retinal vein occlusion (RVO)-both central retinal vein occlusion (CRVO) and branch retinal vein occlusion (BRVO)-3 years after diagnosis in patients who underwent intravitreal therapy and to identify potential prognostic factors and biomarkers of persistent macular edema. Methods: National multicenter, observational, exploratory, retrospective cohort study of 104 consecutive patients with macular edema secondary to RVO diagnosed from January 2014 to December 2015 with minimum 3-year follow-up time. Data analyzed included best-corrected visual acuity (BCVA), clinical and demographic data, and spectral domain optical coherence tomography parameters. Results: At final observation, median baseline central retinal thickness significantly improved from baseline 538 to 290 μm (p < 0.001) and complete macular edema resolution was achieved in 51.0% of patients (56.3% and 42.5% in BRVO and CRVO patients, respectively). BCVA also improved (p < 0.01). Logistic regression analysis revealed a relationship between recurrence of macular edema and disorganization of retinal inner layers (DRIL) at baseline (odds ratio = 2.88; p = 0.013). Conclusion: Good long-term anatomical and functional outcomes are achieved with intravitreal treatments in RVO patients. Anatomical success and visual gains seen in the first year were maintained throughout the entire follow-up, though DRIL is a major risk factor for recurrence.info:eu-repo/semantics/publishedVersio

Using avian functional traits to assess the impact of land-cover change on ecosystem processes linked to resilience in tropical forests

Vertebrates perform key roles in ecosystem processes via trophic interactions with plants and insects, but the response of these interactions to environmental change is difficult to quantify in complex systems, such as tropical forests. Here, we use the functional trait structure of Amazonian forest bird assemblages to explore the impacts of land-cover change on two ecosystem processes: seed dispersal and insect predation. We show that trait structure in assemblages of frugivorous and insectivorous birds remained stable after primary forests were subjected to logging and fire events, but that further intensification of human land use substantially reduced the functional diversity and dispersion of traits, and resulted in communities that occupied a different region of trait space. These effects were only partially reversed in regenerating secondary forests. Our findings suggest that local extinctions caused by the loss and degradation of tropical forest are non-random with respect to functional traits, thus disrupting the network of trophic interactions regulating seed dispersal by forest birds and herbivory by insects, with important implications for the structure and resilience of human-modified tropical forests. Furthermore, our results illustrate how quantitative functional traits for specific guilds can provide a range of metrics for estimating the contribution of biodiversity to ecosystem processes, and the response of such processes to land-cover change

The macroecology of phylogenetically structured hummingbird-plant networks

Aim To investigate the association between species richness, species' phylogenetic signal, insularity and historical and current climate with hummingbird-plant network structure. Location 54 communities along a c. 10,000 kilometer latitudinal gradient across the Americas (39ºN - 32ºS), ranging from sea level to c. 3700 m asl, located on the mainland and on islands, and covering a wide range of climate regimes. Methods We measured null-modeled corrected complementary specialization and bipartite modularity (compartmentalization) in networks of quantitative interactions between hummingbird and plant species. Using an ordinary least squares multi-model approach, we examined the influence of species richness, phylogenetic signal, insularity, and current and historical climate conditions on network structure. Results Phylogenetically-related species, especially plants, showed a tendency to interact with a similar array of partners. The spatial variation in network structure exhibited a constant association with species' phylogeny (R2=0.18-0.19). Species richness and environmental factors showed the strongest associations with network structure (R2=0.20-0.44; R2138 =0.32-0.45, respectively). Specifically, higher levels of complementary specialization and modularity were associated to species-rich communities and communities in which closely-related hummingbirds visited distinct sets of flowering species. On the mainland, warmer temperatures and higher historical temperature stability associated to higher levels of complementary specialization. Main conclusions Previous macroecological studies of interaction networks have highlighted the importance of environment and species richness in determining network structure. Here, for the first time, we report an association between species phylogenetic signal and network structure at macroecological scale. Specifically, null model corrected complementary specialization and modularity exhibited a positive association with species richness and a negative association with hummingbird phylogenetic signal, indicating that both high richness and high inter-specific competition among closely-related 150 hummingbirds exhibit important relationships with specialization in hummingbird-plant networks. Our results document how species richness, phylogenetic signal and climate associate with network structure in complex ways at macroecological scale