High-risk screening and diagnosis of inborn errors of metabolism : a practical guide for laboratories

Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular metabolic step. The number of laboratories dedicated to the study of IEM is very limited worldwide, and its multiplication is urgently required for a more effective diagnosis. With the scarcity of specialized centers, the diagnosis of affected individuals comes too late or does not happen at all. Moreover, the biological samples have to travel long distances, compromising its quality and delaying still more the diagnosis. In this work, we suggest a practical guide for a basic biochemical laboratory to get involved in the study of IEM. This proposal was based on already described metabolic tests and involves the need of just a few, simple, and affordable instruments that can give an enormous quantity of information about the possible metabolic defect faced, such as a spectrophotofluorometer and a gas chromatography/mass spectrometry (GC/MS) instrument. The procedures proposed can be customized and adapted to particular needs and situations, which make it especially useful for developing countries

Using Chemical Modeling to Asses Water Quality in the Raigón Aquifer System in Southern Uruguay

The Raigón aquifer is an important groundwater system in southern Uruguay. The increasing use of groundwater resources in the last decades has provoked changes in the concentration of many elements which are strongly related to anthropogenic pollution sources. Concentration levels are useful to detect changes in reservoir status but it is also necessary to analyze their chemical significance in order to make an accurate assessment of the sources of contamination and the causes of changes. In this work we use the available thermodynamic data to calculate chemical speciation on these groundwater samples. Trace elements present as anions, in particular Se and Mo, are especially focused to show the chemical modeling possibilities. Both elements form anionic species, predominantly MoO42- and SeO42-. Results show that these anions interact in solution and are greatly influenced by the concentration of the abundant calcium ion. Localized changes in pH can strongly affect the situation. The same is observed with the pE parameter, but only in the case of Se. Chemical speciation of trace elements is in general highly dependent on pH, pE and concentration of major elements. In consequence, for a fixed analytical total concentration, these parameters can markedly change the situation, affecting the mobility, the bioavailability and environmental fate of these elements. The strategy employed in this work can also be extended to the study of many other environmental water scenarios.The authors are grateful to CSIC (Programa de Apoyo a Grupos) and ANII (Project FCE_2011_6491), Uruguayan organizations, for financial support.Peer Reviewe

Using Chemical Modeling to Asses Water Quality in the Raigón Aquifer System in Southern Uruguay

The Raigón aquifer is an important groundwater system in southern Uruguay. The increasing use of groundwater resources in the last decades has provoked changes in the concentration of many elements which are strongly related to anthropogenic pollution sources. Concentration levels are useful to detect changes in reservoir status but it is also necessary to analyze their chemical significance in order to make an accurate assessment of the sources of contamination and the causes of changes. In this work we use the available thermodynamic data to calculate chemical speciation on these groundwater samples. Trace elements present as anions, in particular Se and Mo, are especially focused to show the chemical modeling possibilities. Both elements form anionic species, predominantly MoO42- and SeO42-. Results show that these anions interact in solution and are greatly influenced by the concentration of the abundant calcium ion. Localized changes in pH can strongly affect the situation. The same is observed with the pE parameter, but only in the case of Se. Chemical speciation of trace elements is in general highly dependent on pH, pE and concentration of major elements. In consequence, for a fixed analytical total concentration, these parameters can markedly change the situation, affecting the mobility, the bioavailability and environmental fate of these elements. The strategy employed in this work can also be extended to the study of many other environmental water scenarios

Voltammetric characterization of [ReO]3+ containing complexes

In the present work, the voltammetric profiles of Au-pc in 1 mM solutions of K[ReVOCl2(L)] (L = dianions of H2hida or H2eida; hida, n-(2,6-dimethylphenyl carbamoylmethyl)imino diacetic acid, and eida, 2,6-diethyl ida) complexes were evaluated. The obtained electrochemical response was the result of the contributions coming from the [ReO]3+ core (Epa at ca. 0.2 V vs. Ag/AgNO3) and the carboxylic group of the ligand. There where also observed redox contributions ascribed to the presence of perrhenate coming from the decomposition of the complex with the lost of ligands, in agreement with the low stability of the studied complexes. copyright The Electrochemical Society.Instituto de Investigaciones Fisicoquímicas Teóricas y AplicadasFacultad de Ciencias Exacta

Os pecados e os prazeres terrenos no Jardim das Delícias de Bosch

Neste estudo objetivamos compreender as relações entre as descrições e as representações de Paraíso e Inferno e sua presença na obra de Hieronymus Bosch. Considerado um dos grandes pintores do final do medievo, Bosch retratou importantes aspectos do imaginário do período entre os séculos XV e XVI. Neste contexto, interessa-nos identificar as permanências da mentalidade medieval no seu tríptico a óleo, O Jardim das Delícias, visto que muitos dos elementos existentes nesta obra baseiam-se em pinturas, textos literários e eclesiásticos conhecidos por seus contemporâneos, acrescidos de simbologias próprias. Utilizamos por metodologia a pesquisa bibliográfica e a análise de imagem

A INFÂNCIA NA IDADE MÉDIA (SÉC. XIV AO XVI): DISCUSSÕES PERTINENTES

The focus of this analysis is concentrated in some aspects related to the way the medieval childhood appears on the current historiography and the representation of children in some works of the Flemish painter Pieter Bruegel, the Elder. The study of Childhood History, in spite of recent, mixes speeches from many knowledge areas and tense argues. The History process witch involves this concept includes issues that go beyond the biological factors depending on the context and conditions of the sociocultural, considering the productions discourse and the social place gave to childhood in different eras. The bibliographic research has been used as methodology, aimed with the historiographical debate and the analysis of image. The objective is pointing different analyses about the conceptions of the presence or absence of “the sense of childhood” in the Middle Age. The importance of the discussion about the Medieval Childhood is not placed on search the truth in each argument but in polyphonic discourse, which crosses, in differing conceptions of childhood, or the way children are perceived and placed on societies.O enfoque dessa análise está concentrado em alguns aspectos relacionados à forma como a infância medieval é apresentada na historiografia atual e a representação de crianças em algumas obras do pintor flamengo Pieter Bruegel, o Velho. O estudo da História da infância, apesar de recente, envolve discursos de muitas áreas de conhecimento e discussões acirradas. O processo histórico que envolve este conceito inclui questões que vão além dos fatores biológicos, dependendo do contexto e das condições sócio-culturais, e considerando a produção discursiva e os lugares sociais atribuídos à infância em diferentes épocas. Utilizou-se por metodologia a pesquisa bibliográfica visando o debate historiográfico e a análise de imagem. Busca-se apontar diferentes análises sobre as concepções da presença ou ausência do “sentimento de infância” na Idade Média. A importância da discussão a respeito da infância medieval não está localizada na busca de veracidade em cada argumentação, mas na polifonia discursiva que atravessa, diferindo nas concepções de infância, ou seja, a forma como as crianças são percebidas e inseridas nas sociedades

ANALYSIS OF INDICATORS AND COST OF WORLD CLASS MAINTENANCE (WCM) IN FOREST MACHINES

The study was carried out at a forest company located in the Paraná State, Brazil, with the feller buncher, skidder and harvester. The following indicators were evaluated: mechanical availability, mean time between failures, mean time to repair, proactive maintenance index and maintenance costs, based on data obtained over a period of 18 months, contemplating the stages of implantation, maturation and stabilization of the WCM. The results showed an increase in the mechanical availability of the cutting and skidding machines from the implantation stage. The mean time between failures increased from the implantation stage, from 31.59 hours to 37.01 hours in the stabilization stage. As for the mean time to repairs, skidder and harvester presented an increase of 25.9% and 18.9% respectively; however, this increase in time represented an improvement in the quality of maintenance services, reflected in the results of mean time between failures. There was also a 31% increase in the proactive index of the machines studied, resulting in 9% reduction in maintenance costs between the deployment and stabilization stages

An elusive dark central mass in the globular cluster M4

Recent studies of nearby globular clusters have discovered excess dark mass in their cores, apparently in an extended distribution, and simulations indicate that this mass is composed mostly of white dwarfs (respectively stellar-mass black holes) in clusters that are core-collapsed (respectively with a flatter core). We perform mass-anisotropy modelling of the closest globular cluster, M4, with intermediate slope for the inner stellar density. We use proper-motion data from Gaia EDR3 and from observations by the Hubble Space Telescope. We extract the mass profile employing Bayesian Jeans modelling, and check our fits with realistic mock data. Our analyses return isotropic motions in the cluster core and tangential motions ($\beta\approx -0.4$$\pm$$0.1$) in the outskirts. We also robustly measure a dark central mass of roughly $800\pm300 \,$M$_{\odot}$, but it is not possible to distinguish between a point-like source, such as an intermediate-mass black hole (IMBH), or a dark population of stellar remnants of extent $\approx 0.016\,\rm pc \simeq 3300\,AU$. However, when removing a high-velocity star from the cluster centre, the same mass excess is found, but more extended ($\sim 0.034\, \rm{pc} \approx 7000\,\rm AU$). We use Monte Carlo $N$-body models of M4 to interpret the second outcome, and find that our excess mass is not sufficiently extended to be confidently associated with a dark population of remnants. Finally, we discuss the feasibility of these two scenarios (i.e., IMBH vs. remnants), and propose new observations that could help to better grasp the complex dynamics in M4's core.Comment: 19 page, 15 figures, 3 tables. Accepted for publication in MNRA

Voltammetric characterization of [ReO]3+ containing complexes

In the present work, the voltammetric profiles of Au-pc in 1 mM solutions of K[ReVOCl2(L)] (L = dianions of H2hida or H2eida; hida, n-(2,6-dimethylphenyl carbamoylmethyl)imino diacetic acid, and eida, 2,6-diethyl ida) complexes were evaluated. The obtained electrochemical response was the result of the contributions coming from the [ReO]3+ core (Epa at ca. 0.2 V vs. Ag/AgNO3) and the carboxylic group of the ligand. There where also observed redox contributions ascribed to the presence of perrhenate coming from the decomposition of the complex with the lost of ligands, in agreement with the low stability of the studied complexes. copyright The Electrochemical Society.Instituto de Investigaciones Fisicoquímicas Teóricas y AplicadasFacultad de Ciencias Exacta

A saúde da população LGBTQIA+ durante a pandemia da Covid-19: Revisão sistemática e análise de redes

The Covid-19 pandemic forced countries to reorganize their funds and health services to meet the thousands of demands for care. Although contagious diseases are crossed by gender and sexuality issues, the measures to combat it did not take into account the particularities of different groups, as well as the LGBTQIA+ population. In this sense, the objective was to discuss the impacts of the pandemic on access to health services and the physical and mental health of this population, based on a systematic literature review and network analysis of studies extracted from the WoS and PubMed databases. The results were divided into three sections: “Particularities and access to health services”; “Psychiatric symptoms, psychological distress and use of psychoactive substances: country studies”; and “Network analysis”. A greater number of studies were identified in developed countries, such as the United States and Canada, and only two studies included Brazil. It was found that, in addition to the pandemic potentiating barriers to access to health services, it increased vulnerability to coronavirus infection, the rates of psychological distress and psychiatric disorders, such as depression and anxiety, and the use of licit and illicit substances, in addition to causing the weakening of social bonds.A pandemia da Covid-19 obrigou os países a reorganizarem suas verbas e serviços de saúde para atender as milhares de demandas por atendimento. Apesar das doenças contagiosas serem atravessadas por questões de gênero e sexualidade, as medidas de enfrentamento não levaram em consideração as particularidades dos diferentes grupos, como da população LGBTQIA+. Nesse sentido, objetivou-se discutir os impactos da pandemia sobre o acesso aos serviços de saúde e a saúde física e mental desta população, a partir de uma revisão sistemática da literatura e análise de redes dos estudos extraídos das bases de dados WoS e PubMed. Os resultados foram divididos em três seções: “Particularidades e acesso aos serviços de saúde”; “Sintomas psiquiátricos, sofrimento psíquico e uso de substâncias psicoativas: estudos por país”; e “Análise de redes”. Identificou-se maior número de estudos em países desenvolvidos, como Estados Unidos e Canadá, e apenas dois estudos que incluem o Brasil. Verificou-se que, além da pandemia potencializar as barreiras de acesso aos serviços de saúde, aumentou a vulnerabilidade frente à infecção por coronavírus, os índices de sofrimento psíquico e transtornos psiquiátricos, como depressão e ansiedade, e do uso de substâncias lícitas e ilícitas, além de acarretar a fragilização dos vínculos sociais