Comprehensive risk prediction in cardiomyopathies: new genetic and imaging markers of risk, volume II

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Mass spectrometry improvement on an high current ion implanter

The development of accurate mass spectrometry, enabling the identification of all the ions extracted from the ion source in a high current implanter is described. The spectrometry system uses two signals (x-y graphic), one proportional to the magnetic field (x-axes), taken from the high-voltage potential with an optic fiber system, and the other proportional to the beam current intensity (y-axes), taken from a beam-stop. The ion beam mass register in a mass spectrum of all the elements magnetically analyzed with the same radius and defined by a pair of analyzing slits as a function of their beam intensity is presented. The developed system uses a PC to control the displaying of the extracted beam mass spectrum, and also recording of all data acquired for posterior analysis. The operator uses a LabView code that enables the interfacing between an I/O board and the ion implanter. The experimental results from an ion implantation experiment are shown. (C) 2011 Elsevier B.V. All rights reserved

McArdle disease: mutational spectrum of Portuguese patients

McArdle disease or Glycogen Storage Disease type V (GSD V; myophosphorylase deficiency; MIM 232600) its an inborn error of glycogen metabolism, caused by a deficiency in muscle specific isoform of glycogen phosphorylase. This metabolic myopathy is characterised by exercise intolerance, myalgia, cramps and episodic myoglobinuria, symptoms that usually appear during the second or third decade of life. The diagnosis was typically made in muscle biopsy by histological analysis (demonstration of subsarcolemmal glycogen deposits and negative histochemical stain for phosphorylase) and/or measurement of muscle phosphorylase activity. Although since 1984, when the gene of muscle isoform of phosphorylase (myophosphorylase) was cloned and assigned to chromosome 11 (11q13), molecular genetics analysis has been more and more used to confirm the clinical diagnosis. Until now, 146 pathogenic mutations have been described (according to HGMDTM) including nonsense, missense and framshift mutations. High genetic heterogeneity is a hallmark of McArdle disease with a very frequent common mutation among Caucasian populations – R49X (present in about 60% of the mutated alleles) – and several rare mutations, without a clear genotype/phenotype correlation. The authors will present molecular data from the characterisation of 53 Portuguese patients, from 42 families, with McArdle disease. Our results reveal the presence of the R49X mutation in 60 of the alleles (57%), in accordance to what has been described to other Caucasian populations, being identified a total of 15 different mutations were identified. These results allowed in many cases the diagnosis without the need of a muscle biopsy, but also provide valuable information for genetic counselling and to increase the knowledge about the molecular pathology of this disorder

LIVRO DIDÁTICO DE LÍNGUA PORTUGUESA: UM GÊNERO DE DISCURSO MULTIMODAL

Há muito vem se discutindo a importância do livro didático no processo de ensino-aprendizagem. Neste artigo, trazemos algumas reflexões sobre a interface entre livro didático, gênero de discurso e multimodalidade. Procuramos observar em que medida o livro didático é caracterizado como um gênero de discurso multimodal, uma vez que apresenta uma simbiose de linguagens. Para atingir nosso objetivo, recorremos aos pressupostos enunciativo-discursivos de abordagem sócio-histórica Bakhtin (2011), aliados a fundamentos da multimodalidade, apresentados por Rojo e Barbosa (2015), Dionísio (2013), Bonini (2011) e Maingueneau (2016). Apresentamos como corpus dois livros didáticos do ensino fundamental, o que nos revelou a presença de elementos que fazem com que o livro didático seja considerado um gênero de discurso multimodal, o qual abre perspectiva para o aluno se tornar um leitor crítico, se o livro didático for trabalhado no processo de ensino-aprendizagem como um gênero multimodal

Educating for earthquake science and risk in a tectonically slowly deforming region

Over the past decade, scientists have been called to participate more actively in public education and outreach (E&O). This is particularly true in fields of significant societal impact, such as earthquake science. Local earthquake risk culture plays a role in the way that the public engages in educational efforts. In this article, we describe an adapted E&O program for earthquake science and risk. The program is tailored for a region of slow tectonic deformation, where large earthquakes are extreme events that occur with long return periods. The adapted program has two main goals: (1) to increase the awareness and preparedness of the population to earthquake and related risks (tsunami, liquefaction, fires, etc.), and (2) to increase the quality of earthquake science education, so as to attract talented students to geosciences. Our integrated program relies on activities tuned for different population groups who have different interests and abilities, namely young children, teenagers, young adults, and professionals

The Impact of Ischemia Assessed by Magnetic Resonance on Functional, Arrhythmic, and Imaging Features of Hypertrophic Cardiomyopathy

Funding: LL is supported by an MRC UK clinical academic partnership award (CARP) MR/T005181/1.publishersversionpublishe

A ASCENÇÃO E QUEDA DO IMPÉRIO X

O presente caso narra a trajetória do empresário Eike Batista desde seus tempos de estudante de engenharia, passando por seu primeiro empreendimento na mineração de ouro, ascensão a “maior empreendedor do Brasil” e homem mais rico do Brasil, até o declínio de seu grupo, culminando no pedido de recuperação judicial pessoal e de suas empresas. A partir de sua história é possível observar diversos pontos fulcrais que contribuíram ora para seu crescimento, ora para seu insucesso. Os fatos narrados destinam-se a uma reflexão que instigue estudantes e profissionais das áreas de Ciências Contábeis e Administração a relacionarem tais acontecimentos práticos à Teoria da Agência e à Teoria da Divulgação. Ainda assim, dada a abrangência do caso quanto à trajetória do empreendedor citado e do ciclo de vida de suas empresas, pode ser aplicado sob outras temáticas relacionadas a Finanças e Empreendedorismo

A ASCENÇÃO E QUEDA DO IMPÉRIO X

O presente caso narra a trajetória do empresário Eike Batista desde seus tempos de estudante de engenharia, passando por seu primeiro empreendimento na mineração de ouro, ascensão a “maior empreendedor do Brasil” e homem mais rico do Brasil, até o declínio de seu grupo, culminando no pedido de recuperação judicial pessoal e de suas empresas. A partir de sua história é possível observar diversos pontos fulcrais que contribuíram ora para seu crescimento, ora para seu insucesso. Os fatos narrados destinam-se a uma reflexão que instigue estudantes e profissionais das áreas de Ciências Contábeis e Administração a relacionarem tais acontecimentos práticos à Teoria da Agência e à Teoria da Divulgação. Ainda assim, dada a abrangência do caso quanto à trajetória do empreendedor citado e do ciclo de vida de suas empresas, pode ser aplicado sob outras temáticas relacionadas a Finanças e Empreendedorismo

Characterization of advanced glycation end products and their receptor (RAGE) in an animal model of myocardial infarction

Circulating advanced glycation end products (AGE) and their receptor, RAGE, are increased after a myocardial infarction (MI) episode and seem to be associated with worse prognosis in patients. Despite the increasing importance of these molecules in the course of cardiac diseases, they have never been characterized in an animal model of MI. Thus, the aim of this study was to characterize AGE formation and RAGE expression in plasma and cardiac tissue during cardiac remodeling after MI in rats. Adult male Wistar rats were randomized to receive sham surgery (n = 15) or MI induction (n = 14) by left anterior descending coronary artery ligation. The MI group was stratified into two subgroups based on postoperative left ventricular ejection fraction: low (MIlowEF) and intermediate (MIintermEF). Echocardiography findings and plasma levels of AGEs, protein carbonyl, and free amines were assessed at baseline and 2, 30, and 120 days postoperatively. At the end of follow-up, the heart was harvested for AGE and RAGE evaluation. No differences were observed in AGE formation in plasma, except for a decrease in absorbance in MIlowEF at the end of follow-up. A decrease in yellowish-brown AGEs in heart homogenate was found, which was confirmed by immunodetection of N-ε-carboxymethyl-lysine. No differences could be seen in plasma RAGE levels among the groups, despite an increase in MI groups over the time. However, MI animals presented an increase of 50% in heart RAGE at the end of the follow-up. Despite the inflammatory and oxidative profile of experimental MI in rats, there was no increase in plasma AGE or RAGE levels. However, AGE levels in cardiac tissue declined. Thus, we suggest that the rat MI model should be employed with caution when studying the AGERAGE signaling axis or anti-AGE drugs for not reflecting previous clinical findings

Relação entre exame clínico e radiográfico no diagnóstico da osteoartrite equina

oint disease, specifically osteoarthritis, is one of the most prevalent and debilitating diseases affecting athletic horses. Despite technological advances in recent decades, clinical and radiographic examinations are still the most commonly used methods for diagnosis of equine osteoarthritis. Clinical data of 2872 horses were compiled and compared for this study, it were evaluated 146 cases of osteoarthritis and radiographies of 259 affected joints were reviewed in order to verify how far radiographic examination is consistent with the clinical examination, and to correlate the clinical changes with physical activity performed by horses. Records showed that osteoarthritis in the fetlock and pastern joints (digit) when displaying radiographic changes makes horses more prone to show lameness, compared to others who also have osteoarthritis with radiographic evidence, but in the tarsocrural joint. However, radiographic scores do not correlate the radiographic image with the presence or absence of lameness. The type of physical activity performed by the horses had no influence on the frequency of clinical signs of osteoarthritis. The horses with osteoarthritis had an average of 8.4 ± 3.9 years old and were used for ride, western and work with cattle. Among the breeds studied, those that most frequently had horses with osteoarthritis were Mangalarga Marchador, Crioulo and Quarter Horse.A doença articular, especificamente osteoartrite, é uma das afecções mais prevalentes e debilitantes que acometem os equinos atletas. Apesar dos avanços tecnológicos nas últimas décadas, os exames clínico e radiográfico ainda são os meios mais comumente utilizados para o diagnóstico da osteoartrite equina. Neste estudo foram compilados e confrontados dados clínicos de 2872 equinos. Foram avaliados 146 casos de osteoartrite e analisadas radiograficamente 259 articulações com osteoartrite, para verificar quanto o exame radiográfico é condizente com o exame físico, e relacionar alterações clínicas com a modalidade de atividade física executada pelos cavalos. Pode-se constatar que a osteoartrite interfalangeana e metacarpo/metatarso falangeana (dígito) quando exibe alterações radiográficas faz com que os cavalos sejam mais propensos a claudicar, comparativamente a outros que também apresentam osteoartrite evidenciada radiograficamente, porém na articulação do tarso. Contudo, os escores radiográficos não correlacionaram a imagem radiográfica com a presença ou não de claudicação. A modalidade de atividade física não interferiu na frequência dos sinais clínicos de osteoartrite. Os equinos que mais apresentaram osteoartrite possuíam idade média de 8,4 ± 3,9 anos e eram utilizados para romaria, provas de quarto de milha e trabalho com o gado. Dentre as raças estudadas, as que mais frequentemente apresentaram equinos com osteoartrite foram Mangalarga Marchador, Crioulo e Quarto de Milha