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Abstract Synonymous single nucleotide variants (sSNVs) do not alter the primary structure of a protein, thus it was previously accepted that they were neutral. Recently, several studies demonstrated their significance to a range of diseases. Still, variant prioritization strategies lack focus on sSNVs. Here, we identified 22,841 deleterious synonymous variants in 125,748 human exomes using two in silico predictors (SilVA and CADD). While 98.2% of synonymous variants are classified as neutral, 1.8% are predicted to be deleterious, yielding an average of 9.82 neutral and 0.18 deleterious sSNVs per exome. Further investigation of prediction features via Heterogeneous Ensemble Feature Selection revealed that impact on amino acid sequence and conservation carry the most weight for a deleterious prediction. Thirty nine detrimental sSNVs are not rare and are located on disease associated genes. Ten distinct putatively non-deleterious sSNVs are likely to be under positive selection in the North-Western European and East Asian populations. Taken together our analysis gives voice to the so-called silent mutations as we propose a robust framework for evaluating the deleteriousness of sSNVs in variant prioritization studies.

Fábrica de Loiça de Sacavém (ca. 1858–1994) was among the first to produce white earthenware in Portugal, becoming one of the country’s leading ceramic manufacturers during the late 19th to early 20th centuries. Research on white earthenware has accompanied the growing interest in post-industrial archaeology but is still poorly explored compared to more ancient ceramic productions. This study focused on the ceramic body, glazes, and colourants of tableware produced by Fábrica de Loiça de Sacavém during the first 50 years of its activity (1859–1910). A multi-analytical approach was selected to investigate the chemical and mineralogical composition of the ceramic body, glaze, and pigments using optical microscopy, variable-pressure scanning electron microscope energy-dispersive X-ray spectroscopy (VP-SEM-EDS), μ-Raman spectroscopy, μ-X-ray Diffraction (μ-XRD), and reflectance spectroscopy (hyperspectral image analysis). The studied tableware was produced with a Ca-poor siliceous–aluminous white earthenware ceramic body covered with transparent alkali lead or lead borosilicate glaze, and most colourants were complex Cr-based pigments. These results are in agreement with the little documental evidence from this period found in the manufacturer’s archives.

Dimensionality reduction techniques are applied in luminescence thermometry for more precise readouts.

Resumo Há uma enorme disparidade entre os países de alta renda e outros em termos de acesso a dispositivos médicos cardíacos, como marca-passos e desfibriladores implantáveis. Os custos são uma das principais barreiras ao uso de dispositivos cardíacos nesses países. Existem iniciativas internacionais que visam reduzir essa disparidade, e o reuso de marca-passos tem sido discutido como uma possível alternativa. O conceito de reutilização de marca-passos não é novo; entretanto, estudos recentes têm se mostrado seguros, éticos e eficazes para aqueles que precisam de dispositivos eletrônicos cardíacos implantáveis e não tem como adquiri-los. Parte dos países de língua portuguesa, especialmente na África, precisam de uma resposta imediata que beneficie seus inúmeros pacientes que sofrem de arritmias tratáveis.

Resumo: Este trabalho tem como objetivo analisar a reconstrução que Manfredo Oliveira elabora acerca do pensamento de Habermas no que concerne à arquitetônica da filosofia prática - relativo ao projeto democrático da vida política e a questão dos direitos humanos - e à arquitetônica da filosofia teórica - a interpretação pragmático-realista do conceito da verdade, o qual resulta no reconhecimento de um déficit ontológico fundamental que gera uma indeterminação basilar na nova concepção pragmático-realista da verdade. Diante desses limites, Manfredo Oliveira, junto com Lorenz Puntel, apontam para o desafio de repensar a metafísica hoje (Por uma Nova Metafísica), o que aqui se faz diante da reflexão da postura pós-metafísica de J. Habermas versus uma Nova Metafísica.

Introduction Tinnitus is experienced by a significant part of the patients suffering from otosclerosis. Objective To assess the prevalence of tinnitus in otosclerosis, its main features, and the impact on the daily life. Methods Patients diagnosed with otosclerosis in 2019 in a tertiary hospital were enrolled in the study. Demographic data were retrieved and, besides a regular audiometric evaluation, the patients underwent acuphenometry to assess the psychoacoustic measurements (pitch and loudness), and the Tinnitus Handicap Inventory (THI). Results In total, 66 patients fulfilled the inclusion criteria, with a female predominance (63.6%; n = 42), and a mean age of 48.7 years. The mean air-bone gap was of 26.3 dB. A total of 72.7% complained of tinnitus; it was mostly unilateral, identified in the low frequencies, namely 500 Hz, with median loudness of 7.5 dB. The median score on the THI score was of 37; most patients had a mild handicap (33.3%, n = 16), followed by those with a severe handicap (22.9%; n = 11). The female gender had a statistically significant association with the presence of tinnitus. The THI scores were higher in middle-aged patients (age groups: 40 to 49 and 50 to 59 years), which was statistically significant. No correlation was found between audiometry results and the prevalence of tinnitus or score on the THI. On the other hand, high-pitched tinnitus, compared to low pitched-tinnitus, was associated with larger air-bone gaps. Conclusion The prevalence of tinnitus in our population was in line with the prevalences reported in the literature. It caused a catastrophic handicap in 22.9% of the patients. High-pitched tinnitus was associated with higher handicap. Nonetheless, the existence of tinnitus and its severity were not associated with the degree of hearing loss.

Introdução: A patologia vestibular na população pediátrica é um tema bastante controverso, mas que tem ganho cada vez mais destaque. A prevalência reportada nesta população varia entre 0,7% e 15%. No entanto, este valor pode estar subestimado, uma vez que a sua forma de expressão na população pediátrica é muito diferente da dos adultos, podendo ir desde a vertigem rotatória até queixas de alterações da visão, cefaleias, atraso motor ou dificuldades na aprendizagem. Embora na literatura a otite média com efusão seja considerada a principal causa de disfunção vestibular nesta faixa etária, existem outras que devem ser consideradas. O objetivo deste estudo foi descrever as características clínicas da população pediátrica encaminhada para avaliação em consulta de Otorrinolaringologia num hospital terciário, por suspeita de disfunção vestibular, desde o ano de 2013 até 2017; Também se pretendeu comparar os resultados e realizar uma revisão da literatura acerca das etiologias mais frequentes, características diagnósticas e abordagem terapêutica. Material e Métodos: Foram analisados de forma retrospetiva os processos clínicos dos doentes observados na consulta de subespecialidade de Vertigem de Otorrinolaringologia com idades entre 0 e 18 anos. Foram excluídos os doentes com diagnóstico de otite média com efusão. Resultados: Cumpriam os critérios de inclusão 37 doentes, dos quais 59% eram do sexo feminino, sendo a idade média da primeira consulta de 10,9 anos. O motivo mais frequente de referenciação foi a vertigem rotatória. As náuseas e cefaleias foram também sintomas frequentemente descritos. Todos os doentes foram submetidos a audiometria tonal; a videonistagmografia foi realizada em 41% dos casos; exames de imagem foram realizados em 59% dos doentes. No que respeita às etiologias do quadro, as mais frequentes foram a enxaqueca vestibular e a vertigem paroxística benigna da infância (ambas em 27% dos casos), seguida da neuronite vestibular (em 22% dos casos). Discussão: Embora os resultados sejam, em parte, sobreponíveis à literatura, comparativamente a outros centros de referência a diversidade de motivos de referenciação e de patologias é menor, o que pode apontar para o subdiagnóstico da disfunção vestibular nesta faixa etária. Conclusão: A disfunção vestibular em idade pediátrica pode ter uma multiplicidade de etiologias, pelo que pediatras, neurologistas, fisiatras, médicos de família e otorrinolaringologistas devem estar alerta para as diversas formas de apresentação desta entidade. Deverão ser criados protocolos de referenciação e avaliação adequados para esta população.

Diseases of the biliary tract are the most common feline hepatic disorders. Cholangitis is the term used to describe inflammation of the biliary tract in felines and can be associated with parasites. Affected animals must undergo clinical or surgical treatment, or a combination of both. In this paper we presented a 10-year-old male, mongrel feline with an obstruction of the biliary tract caused by a rare infection of Platynosomum fastosum.

Cancer is associated with a higher risk of stroke, and in rare cases stroke can be the first manifestation of occult neoplasia. We present the case of a 74-year-old woman hospitalized for ischaemic stroke with multiple cerebral infarctions in several vascular territories. The exclusion of other aetiologies and the simultaneous presence of thromboembolic events in other organs raised the suspicion of a hypercoagulable state, which upon investigation revealed occult neoplasia of the lung. There was rapid deterioration, with recurrent thrombotic events despite anticoagulation, which eventually led to the patient’s death.

This work presents an analytical methodology to predict meat juiciness (discriminant semi-quantitative analysis using groups of intervals of intramuscular fat) and intramuscular fat (regression analysis) in Longissimus thoracis et lumborum (LTL) muscle of Bísaro pigs using as independent variables the animal carcass weight and parameters from color and image analysis. These are non-invasive and non-destructive techniques which allow development of rapid, easy and inexpensive methodologies to evaluate pork meat quality in a slaughterhouse. The proposed predictive supervised multivariate models were non-linear. Discriminant mixture analysis to evaluate meat juiciness by classified samples into three groups—0.6 to 1.1%; 1.25 to 1.5%; and, greater than 1.5%. The obtained model allowed 100% of correct classifications (92% in cross-validation with seven-folds with five repetitions). Polynomial support vector machine regression to determine the intramuscular fat presented R2 and RMSE values of 0.88 and 0.12, respectively in cross-validation with seven-folds with five repetitions. This quantitative model (model’s polynomial kernel optimized to degree of three with a scale factor of 0.1 and a cost value of one) presented R2 and RSE values of 0.999 and 0.04, respectively. The overall predictive results demonstrated the relevance of photographic image and color measurements of the muscle to evaluate the intramuscular fat, rarther than the usual time-consuming and expensive chemical analysis.

his paper assesses the role of biological geotextiles on non-agricultural erosion environments, based on studies in the mine tailings Gauteng Province (South Africa) and urban area of São Luis City (Brazil). Gauteng Province (South Africa) has suffered immense problems related to sustainable rehabilitation of mine dumps. This is a huge challenge, as wastes are highly susceptible to both water and wind erosion. Establishing a grass cover to reduce erosion is the dominant reclamation method. Covering the slopes with biological geotextiles might constitute another option for mining companies to reduce erosion and aid natural re-vegetation. The objective of the waste part of this study was to determine the beneficial effect of palm mat cover on erosion control, using rainfall simulation. Results clearly illustrated that application of palm-mats more than halved the sediment load in runoff, thereby having the potential to effectively stabilize tailing dam slopes. Covering tailings with palm-mats did not reduce runoff or improve water infiltration, however. In São Luis City, biological geotextile mats were constructed from palm leaves which are an effective, sustainable and economically-viable soil conservation technique. At Sacavém Community biological geotextile mats were used in association with barriers of wooden stakes and the construction of terraces along contour lines. The aim is to minimize soil erosion, by intercepting rainfall, retarding runoff velocity and sediment loss.

V současné době je kladen velký tlak na rychlou a kvalitní tvorbu návrhů projektů výrobních systémů. Pro tyto účely se používá různých softwarových pomůcek pro analýzu, návrh a ověření těchto projektů. Tyto pomůcky se ale většinou používají samostatně nebo s minimální vzájemnou datovou provázaností. Ruční spojování projektových dat vede ke zpomalení v procesu navrhování, duplikační činnosti, případně je i zdrojem chyb. Článek se obecně zabývá tématikou navrhování výrobních projektů, konkrétně integrací jednotlivých softwarových pomůcek do jednoho systému. Jsou zde popsány jednotlivé nástroje a jejich funkce, principy integrace a další možnosti plynoucí z tohoto propojení jako např. generování simulačních modelů z databáze, generování pozic zařízení do výrobního layoutu a jejich optimálního vzájemného uspořádání podle materiálových toků.