New Ocular Findings in a Patient with a Novel Pathogenic Variant in the FBXO11 Gene

Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is a recently described autosomal dominant entity caused by pathogenic variants, mostly de novo, in the FBXO11 gene. It presents in the first years of life with highly variable clinical manifestations. The main features of IDDFBA include borderline-to-severe intellectual disability, behavioral problems, hypotonia, facial dysmorphisms, minor skeletal abnormalities, and recurrent infections. Although eye problems, such as refractive errors, eye misalignment and minor visual changes, have been described in about 48% of patients, a major ocular defect, namely, bilateral optic nerve hypoplasia, has been reported in the literature only once. We report an 8-year-old boy with a novel de novo pathogenic variant in FBXO11 gene (NM_001190274.1: c.1166dup, p.Cys390Metfs∗3) and a complex ophthalmological phenotype, consisting of right microphthalmia, very shallow anterior chamber, and persistent pupillary membrane, right dense nuclear cataract, bilateral optic nerve hypoplasia, and bilateral horizontal manifest nystagmus.info:eu-repo/semantics/publishedVersio

Using deep learning for ordinal classification of mobile marketing user conversion

In this paper, we explore Deep Multilayer Perceptrons (MLP) to perform an ordinal classification of mobile marketing conversion rate (CVR), allowing to measure the value of product sales when an user clicks an ad. As a case study, we consider big data provided by a global mobile marketing company. Several experiments were held, considering a rolling window validation, different datasets, learning methods and performance measures. Overall, competitive results were achieved by an online deep learning model, which is capable of producing real-time predictions.This article is a result of the project NORTE-01-0247-FEDER-017497, supported by Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF). This work was also supported by Funda¸c˜ao para a Ciˆencia e Tecnologia (FCT) within the Project Scope: UID/CEC/00319/201

Scalable Unsupervised Domain Adaptation for Electron Microscopy

While Machine Learning algorithms are key to automating organelle segmentation in large EM stacks, they require annotated data, which is hard to come by in sufficient quantities. Furthermore, images acquired from one part of the brain are not always representative of another due to the variability in the acquisition and staining processes. Therefore, a classifier trained on the first may perform poorly on the second and additional annotations may be required. To remove this cumbersome requirement, we introduce an Unsupervised Domain Adaptation approach that can leverage annotated data from one brain area to train a classifier that applies to another for which no labeled data is available. To this end, we establish noisy visual correspondences between the two areas and develop a Multiple Instance Learning approach to exploiting them. We demonstrate the benefits of our approach over several baselines for the purpose of synapse and mitochondria segmentation in EM stacks of different parts of mouse brains

Holocene evolution of a barrier island system, Ria Formosa, South Portugal

Holocene evolution of the Ria Formosa barrier island system was studied through the examination of a large subsurface dataset acquired from 191 boreholes and five seismic refraction profiles. Two boreholes with total depths of 26 and 16.5 m were selected for a multi-proxy detailed laboratory analysis, including mean grain size distribution, organic matter (OM) content, color variation, shell identification, and benthic foraminifera assemblages. Selected cores are thought to be representative of the identified depositional sub-basins. Subsurface age data from 16 AMS C-14 dated samples were plotted against depth and resulted in a coherent age model of sedimentary infill. The system evolution was largely controlled by sediment availability, accommodation space, and Holocene sea level rise, first at a rapid rate of 7 mm/yr from 10 kcal yr BP to 7.25 kcal yr BP, followed by a slowdown to 1.1 mm/yr until present. A conceptual model for the origin and Holocene evolution of the Ria Formosa barrier island system implies three main steps, leading to the present system geomorphology: (1) marine flooding of incised palaeovalleys by the rapid transgression of palaeovalleys in the early Holocene(2) development of a proto-barrier island chain perched on Pleistocene detritic headlands and steeper interfluve areas during the early to middle Holoceneand (3) full development of the barrier islands chain and enclosing of the coastal lagoon, followed by the maturation of the system with subsequent siltation and salt marsh expansion from the middle Holocene until present. The onset of barrier system formation dates back to ca. 8 kcal yr BP, predating previously proposed age.SIHER project [PTDC/CTE-GIX112236/2009]EU Erasmus Mundus Joint Doctorate in Marine and Coastal Management (MACOMA) fellowship grant, under University of AlgarveEU Erasmus Mundus Joint Doctorate in Marine and Coastal Management (MACOMA) fellowship grant, under University of Cadi

The resolution of acute inflammation induced by cyclic AMP is dependent on annexin A1

Annexin A1 (AnxA1) is a glucocorticoid-regulated protein known for its anti-inflammatory and pro-resolving effects. We have shown previously that the cAMP-enhancing compounds rolipram (ROL; a PDE4 inhibitor) and Bt2cAMP (a cAMP mimetic) drive caspase-dependent resolution of neutrophilic inflammation. In this follow-up study, we investigated whether AnxA1 could be involved in the pro-resolving properties of these compounds using a model of LPS-induced inflammation in BALB/c mice. The treatment with ROL or Bt2cAMP at the peak of inflammation shortened resolution intervals, improved resolution indices, and increased AnxA1 expression. In vitro studies showed that ROL and Bt2cAMP induced AnxA1 expression and phosphorylation, and this effect was prevented by PKA inhibitors, suggesting the involvement of PKA in ROL-induced AnxA1 expression. Akin to these in vitro findings, H89 prevented ROL- and Bt2cAMP-induced resolution of inflammation, and it was associated with decreased levels of intact AnxA1. Moreover, two different strategies to block the AnxA1 pathway (by using N-t-Boc-Met-Leu-Phe, a nonselective AnxA1 receptor antagonist, or by using an anti-AnxA1 neutralizing antiserum) prevented ROL- and Bt2cAMP-induced resolution and neutrophil apoptosis. Likewise, the ability of ROL or Bt2cAMP to induce neutrophil apoptosis was impaired in AnxA-knock-out mice. Finally, in in vitro settings, ROL and Bt2cAMP overrode the survival-inducing effect of LPS in human neutrophils in an AnxA1-dependent manner. Our results show that AnxA1 is at least one of the endogenous determinants mediating the pro-resolving properties of cAMP-elevating agents and cAMP-mimetic drug

The ρ(1S,2S)\rho(1S,2S), ψ(1S,2S)\psi(1S,2S), Υ(1S,2S)\Upsilon(1S,2S) and ψt(1S,2S)\psi_t(1S,2S) mesons in a double pole QCD Sum Rule

We use the method of double pole QCD sum rule which is basically a fit with two exponentials of the correlation function, where we can extract the masses and decay constants of mesons as a function of the Borel mass. We apply this method to study the mesons: $\rho(1S,2S)$, $\psi(1S,2S)$, $\Upsilon(1S,2S)$ and $\psi_t(1S,2S)$. We also present predictions for the toponiuns masses $\psi_t(1S,2S)$ of m(1S)=357 GeV and m(2S)=374 GeV.Comment: 14 pages, 11 figures in Braz J Phys (2016

Microfluidic systems for the analysis of the viscoelastic fluid flow phenomena in porous media

In this study, two microfluidic devices are proposed as simplified 1-D microfluidic analogues of a porous medium. The objectives are twofold: firstly to assess the usefulness of the microchannels to mimic the porous medium in a controlled and simplified manner, and secondly to obtain a better insight about the flow characteristics of viscoelastic fluids flowing through a packed bed. For these purposes, flow visualizations and pressure drop measurements are conducted with Newtonian and viscoelastic fluids. The 1-D microfluidic analogues of porous medium consisted of microchannels with a sequence of contractions/ expansions disposed in symmetric and asymmetric arrangements. The real porous medium is in reality, a complex combination of the two arrangements of particles simulated with the microchannels, which can be considered as limiting ideal configurations. The results show that both configurations are able to mimic well the pressure drop variation with flow rate for Newtonian fluids. However, due to the intrinsic differences in the deformation rate profiles associated with each microgeometry, the symmetric configuration is more suitable for studying the flow of viscoelastic fluids at low De values, while the asymmetric configuration provides better results at high De values. In this way, both microgeometries seem to be complementary and could be interesting tools to obtain a better insight about the flow of viscoelastic fluids through a porous medium. Such model systems could be very interesting to use in polymer-flood processes for enhanced oil recovery, for instance, as a tool for selecting the most suitable viscoelastic fluid to be used in a specific formation. The selection of the fluid properties of a detergent for cleaning oil contaminated soil, sand, and in general, any porous material, is another possible application

Effects of bromopride on the healing of left colon anastomoses of rats

Objetivo: Avaliar os efeitos da bromoprida sobre a formação de aderências e a cicatrização de anastomoses de cólon esquerdo de ratos. Métodos: Foram incluídos 40 ratos, divididos em dois grupos contendo 20 animais, para administração de bromoprida (grupo de estudo- E) ou solução fisiológica (grupo controle- C). Cada grupo foi dividido em subgrupos contendo 10 animais cada, para eutanásia no terceiro (E3 e C3) ou no sétimo dia (E7 e C7) de pós-operatório. Os ratos foram submetidos à secção do cólon esquerdo e anastomose término-terminal. No dia da relaparotomia, foi avaliada a quantidade total de aderências e removido um segmento colônico contendo a anastomose para análise histopatológica, da força de ruptura e da concentração de hidroxiprolina. Resultados: Não houve diferença entre os grupos em relação à evolução clínica. Dois animais do grupo de estudo apresentaram deiscência de anastomose bloqueada. Os animais que receberam bromoprida apresentaram número de aderências intracavitárias e aderências à anastomose semelhantes ao grupo controle. As anastomoses dos animais do grupo E3 apresentaram menor resistência de ruptura do que as do grupo C3 (p=0,04). Este efeito não ocorreu no sétimo dia de pós-operatório (p=0,37). Não houve diferença significativa entre os grupos em relação à histopatologia ou concentração de hidroxiprolina das anastomoses. Conclusão: O uso da bromoprida está associado à diminuição da resistência tênsil de anastomoses do cólon esquerdo de ratos no terceiro dia de pós-operatório.Objective: To evaluate the effects of bromopride on the formation of adhesions and anastomotic healing in the left colon of rats. Methods: We divided 40 rats into two groups of 20 animals, administration of bromopride (study group-E) or saline (control group- C). Each group was divided into subgroups containing 10 animals each for euthanasia in the third (C3 and E3) or the seventh (E7 and C7) postoperative days. The rats were submitted to section of the left colon and end-to-end anastomosis. On the day of reoperation, we evaluated the total amount of adhesions and removed a colonic segment containing the anastomosis for histopathological analysis, assessment of rupture strength and hydroxyproline concentration. Results: There was no difference between groups in relation to clinical outcome. Two animals in the study group had blocked anastomotic leakage. The animals that received bromopride had the number of intracavitary adhesions and adhesions to the anastomosis similar to the control group. The anastomoses from the group E3 animals showed lower resistance to rupture the one from the C3 group (p = 0.04). This effect did not occur on the seventh postoperative day (p = 0.37). There was no significant difference between groups in relation to histopathology and hydroxyproline concentration in the anastomoses. Conclusion: The use of bromopride was associated with decreased tensile strength of left colon anastomosis in rats in the third postoperative day

Disturbance and diversity at two spatial scales

The spatial scale of disturbance is a factor potentially influencing the relationship between disturbance and diversity. There has been discussion on whether disturbances that affect local communities and create a mosaic of patches in different successional stages have the same effect on diversity as regional disturbances that affect the whole landscape. In a microcosm experiment with metacommunities of aquatic protists, we compared the effect of local and regional disturbances on the disturbance–diversity relationship. Local disturbances destroyed entire local communities of the metacommunity and required reimmigration from neighboring communities, while regional disturbances affected the whole metacommunity but left part of each local community intact. Both disturbance types led to a negative relationship between disturbance intensity and Shannon diversity. With strong local disturbance, this decrease in diversity was due to species loss, while strong regional disturbance had no effect on species richness but reduced the evenness of the community. Growth rate appeared to be the most important trait for survival after strong local disturbance and dominance after strong regional disturbance. The pattern of the disturbance–diversity relationship was similar for both local and regional diversity. Although local disturbances at least temporally increased beta diversity by creating a mosaic of differently disturbed patches, this high dissimilarity did not result in regional diversity being increased relative to local diversity. The disturbance–diversity relationship was negative for both scales of diversity. The flat competitive hierarchy and absence of a trade-off between competition and colonization ability are a likely explanation for this pattern

National Assessment of Human Health Effects of Climate Change in Portugal: Approach and Key Findings

In this study we investigated the potential impact of climate change in Portugal on heat-related mortality, air pollution–related health effects, and selected vectorborne diseases. The assessment used climate scenarios from two regional climate models for a range of future time periods. The annual heat-related death rates in Lisbon may increase from between 5.4 and 6 per 100,000 in 1980–1998 to between 8.5 and 12.1 by the 2020s and to a maximum of 29.5 by the 2050s, if no adaptations occur. The projected warmer and more variable weather may result in better dispersion of nitrogen dioxide levels in winter, whereas the higher temperatures may reduce air quality during the warmer months by increasing tropospheric ozone levels. We estimated the future risk of zoonoses using ecologic scenarios to describe future changes in vectors and parasites. Malaria and schistosomiasis, which are currently not endemic in Portugal, are more sensitive to the introduction of infected vectors than to temperature changes. Higher temperatures may increase the transmission risk of zoonoses that are currently endemic to Portugal, such as leishmaniasis, Lyme disease, and Mediterranean spotted fever