Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

Retinitis Pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. RP is the leading cause of visual loss in individuals younger than 60 years, with a prevalence of about 1 in 4000. The molecular genetic diagnosis of autosomal recessive RP (arRP) is challenging due to the large genetic and clinical heterogeneity. Traditional methods for sequencing arRP genes are often laborious and not easily available and a screening technique that enables the rapid detection of the genetic cause would be very helpful in the clinical practice. The goal of this study was to develop and apply microarray-based resequencing technology capable of detecting both known and novel mutations on a single high-throughput platform. Hence, the coding regions and exon/intron boundaries of 16 arRP genes were resequenced using microarrays in 102 Spanish patients with clinical diagnosis of arRP. All the detected variations were confirmed by direct sequencing and potential pathogenicity was assessed by functional predictions and frequency in controls. For validation purposes 4 positive controls for variants consisting of previously identified changes were hybridized on the array. As a result of the screening, we detected 44 variants, of which 15 are very likely pathogenic detected in 14 arRP families (14%). Finally, the design of this array can easily be transformed in an equivalent diagnostic system based on targeted enrichment followed by next generation sequencing.

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.

Background: Hirschsprung disease is characterized by the absence of intramural ganglion cells in the enteric plexuses, due to a fail during enteric nervous system formation. Hirschsprung has a complex genetic aetiology and mutations in several genes have been related to the disease. There is a clear predominance of missense/nonsense mutations in these genes whereas copy number variations (CNVs) have been seldom described, probably due to the limitations of conventional techniques usually employed for mutational analysis. In this study, we have looked for CNVs in some of the genes related to Hirschsprung (EDNRB, GFRA1, NRTN and PHOX2B) using the Multiple Ligation-dependent Probe Amplification (MLPA) approach. Methods: CNVs screening was performed in 208 HSCR patients using a self-designed set of MLPA probes, covering the coding region of those genes. Results: A deletion comprising the first 4 exons in GFRA1 gene was detected in 2 sporadic HSCR patients and in silico approaches have shown that the critical translation initiation signal in the mutant gene was abolished. In this study, we have been able to validate the reliability of this technique for CNVs screening in HSCR. Conclusions: The implemented MLPA based technique presented here allows CNV analysis of genes involved in HSCR that have not been not previously evaluated. Our results indicate that CNVs could be implicated in the pathogenesis of HSCR, although they seem to be an uncommon molecular cause of HSCR.

Relative adrenal insufficiency and hemodynamic status in cardiopulmonary bypass surgery patients. A prospective cohort study

BACKGROUND: The objectives of this study were to determine the risk factors for relative adrenal insufficiency in cardiopulmonary bypass patients and the impact on postoperative vasopressor requirements. METHODS: Prospective cohort study on cardiopulmonary bypass patients who received etomidate or not during anesthetic induction. Relative adrenal insufficiency was defined as a rise in serum cortisol

Perspectives interculturelles et interlinguistiques sur le discours académique – Crosscultural and Crosslinguistic Perspectives on Academic Discourse. Volume 1

The Department of French Studies of the University of Turku (Finland) organized an International Bilingual Conference on Crosscultural and Crosslinguistic Perspectives on Academic Discourse from 2022 May 2005. The event hosted specialists on Academic Discourse from Belgium, Finland, France, Germany, Italy, Norway, Spain, and the USA. This book is the first volume in our series of publications on Academic Discourse (AD hereafter). The following pages are composed of selected papers from the conference and focus on different aspects and analytical frameworks of Academic Discourse. One of the motivations behind organizing the conference was to examine and expand research on AD in different languages. Another one was to question to what extent academic genres are culturebound and language specific or primarily field or domain specific. The research carried out on AD has been mainly concerned with the use of English in different academic settings for a long time now – mainly written contexts – and at the expense of other languages. Alternatively the academic genre conventions of English and English speaking world have served as a basis for comparison with other languages and cultures. We consider this first volume to be a strong contribution to the spreading out of researches based on other languages than English in AD, namely Finnish, French, Italian, Norwegian and Romanian in this book. All the following articles have a strong link with the French language: either French is constitutive of the AD corpora under examination or the article was written in French. The structure of the book suggests and provides evidence that the concept of AD is understood and tackled to varying degrees by different scholars. Our first volume opens up the discussion on what AD is and backs dissemination, overlapping and expansion of current research questions and methodologies. The book is divided into three parts and contains four articles in English and six articles in French. The papers in part one and part two cover what we call the prototypical genre of written AD, i.e. the research article. Part one follows up on issues linked to the 13 Research Article (RA hereafter). Kjersti Fløttum asks wether a typical RA exists and concentrates on authors’ voices in RA (self and other dimensions), whereas Didriksen and Gjesdal’s article focuses on individual variation of the author’s voice in RA. The last article in this section is by Nadine Rentel and deals with evaluation in the writing of RA. Part two concentrates on the teaching and learning of AD within foreign language learning, another more or less canonical genre of AD. Two aspects of writing are covered in the first two articles: foreign students’ representations on rhetorical traditions (Hidden) and a contrastive assessment of written exercices in French and Finnish in Higher Education (Suzanne). The last contribution in this section on AD moves away from traditional written forms and looks at how argumentation is constructed in students’ oral presentations (Dervin and Fauveau). The last part of the book continues the extension by featuring four articles written in French exploring institutional and scientific discourses. Institutional discourses under scrutiny include the European Bologna Process (Galatanu) and Romanian reform texts (Moilanen). As for scientific discourses, the next paper in this section deconstructs an ideological discourse on the didactics of French as a foreign language (Pescheux). Finally, the last paper in part three reflects on varied forms of AD at university (Defays). We hope that this book will add some fuel to continue discussing diverse forms of and approches to AD – in different languages and voices! No need to say that with the current upsurge in academic mobility, reflecting on crosscultural and crosslinguistic AD has just but started.

Excessive functions, Appell polynomials and optimal stopping

The main topic of the thesis is optimal stopping. This is treated in two research articles. In the first article we introduce a new approach to optimal stopping of general strong Markov processes. The approach is based on the representation of excessive functions as expected suprema. We present a variety of examples, in particular, the Novikov-Shiryaev problem for Lévy processes. In the second article on optimal stopping we focus on differentiability of excessive functions of diffusions and apply these results to study the validity of the principle of smooth fit. As an example we discuss optimal stopping of sticky Brownian motion. The third research article offers a survey like discussion on Appell polynomials. The crucial role of Appell polynomials in optimal stopping of Lévy processes was noticed by Novikov and Shiryaev. They described the optimal rule in a large class of problems via these polynomials. We exploit the probabilistic approach to Appell polynomials and show that many classical results are obtained with ease in this framework. In the fourth article we derive a new relationship between the generalized Bernoulli polynomials and the generalized Euler polynomials.

Administración en la cadena de suministro y su relación con el desempeño de las PYME del sector agroindustrial

En la actualidad las organizaciones están en búsqueda de una mejora continua, esto lleva a que las empresas hagan una revisión de estrategias que permitan alcanzar una posición de líderes en los diferentes sectores en los que se desempeñan. Una de las estrategias para lograr un alto posicionamiento en las nuevas empresas es la adecuada gestión que hacen de la cadena de suministro. El sector agroindustrial tiene un amplia cadena de suministro desde la obtención de materias primas hasta la llegada al cliente final, por su gran magnitud requiere de una adecuada administración de procesos que permitan ser eficaces y eficientes para alcanzar logros propuestos, aprovechar los recursos limitados con los que cuentan para su cumplimiento y, por último, la capacidad propia para la transformación de sus recursos. Para lograr que las empresas obtengan ventajas competitivas, es necesario que los distintos eslabones de la cadena de suministros cuenten con una capacidad de interacción que les permita, tanto agilizar como asegurar el éxito durante la incorporación de los nuevos productos en el mercado. Por medio de esta investigación se busca esclarecer y analizar la importancia de la administración en la cadena de suministro y la relación con el desempeño, basándose en las Pymes del sector agroindustrial. La intención es evaluar la información de diversos autores quienes han hablado de la relación que existe entre la cadena de suministro y su desempeño, teniendo en cuenta variables como el sector agroindustrial y las Pymes.

Layout och typografi i vetenskapliga artiklar : En kartläggning av konventioner gällande grafisk formgivning inom matematik, medicin och utbildningsvetenskap

En deskriptiv visuell innehållsanalys genomfördes med en korpus bestående av vetenskapliga artiklar från 30 topprankade tidskrifter jämnt fördelade på de tre disciplinerna matematik, medicin och utbildningsvetenskap, med syfte att undersöka om det fanns ett samband mellan tidskrifternas disciplintillhörighet och den grafiska formgivningen. Kartläggningen omfattade layout (bl.a. sidformat, spalter, marginalstorlek, användning av grafiska element, placering av tabeller, figurer och pagina) och typografiskt utseende hos titel, rubriker, brödtext och abstrakt (t.ex. teckenstorlek, textjustering, teckengrovlek, typsnitt, färg och radavstånd). Resultaten visar att disciplinerna använde olika men även gemensamma konventioner i sitt grafiska utseende. Matematik uppvisade enkelspaltig layout med liten typografisk variation, genomgående användning av typsnitt från familjen Transitional eller Transitional/Didone för hela dokumentet, avsaknad av kulört färg och sällan användning av grafiska element. Medicin uppvisade större variation med användning av kulört färg, icke-centrerad typografi med både sansseriff- och seriff-typsnitt, grafiska element och ramar som förstärker det ofta använda dubbelspaltiga gridsystemet. Utbildningsvetenskap uppvisade en grafisk design som återfanns i båda disciplinerna, men påminde mest om matematik till utseendet. Kodbok ingår i sin helhet som bilaga. Uppsatsen i sig är delvis formgiven med utgångspunkt i de erhållna resultaten.

Um roteiro para a escrita de abstracts de artigos de pesquisa: estrutura retórica e técnicas de argumentação

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Metas de realização e autoconceitos de estudantes de ciências em contexto de ensino com pesquisa

Objetivamos verificar se a frequência, participação e aprendizagem em um projeto de pesquisa estariam relacionados com transformações nas metas de realização e autoconceitos de estudantes de ciências. Realizamos a pesquisa em uma escola pública, numa turma de trinta estudantes do 9º ano do Ensino Fundamental. Os estudantes investigaram os saberes de moradores do município de Benfica-PA, a respeito de plantas medicinais e suas relações com a degradação ambiental. Inicialmente, cerca de 75% da turma apresentou meta aprender e 45% apresentou autoconceito positivo. Ocorreram poucas mudanças nas metas e autoconceitos. A maioria dos estudantes teve frequência alta ou regular. Cerca de metade da turma apresentou participação baixa e aprendizagem insuficiente. O autoconceito positivo esteve associado à meta aprender e a melhores níveis de participação e aprendizagem. Tais resultados são corroborados pela literatura. Entretanto, a compreensão de outros resultados que obtivemos demanda um enfoque interpretativo diferente.

O gênero acadêmico: resumos nas áreas de Antropologia, Linguística e Ciência Política

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

O letramento acadêmico em inglês: dificuldades na confecção da seção introdução de artigos acadêmicos

Este trabalho discute as dificuldades de um pós-graduando da área de energia na confecção da introdução de um artigo acadêmico em inglês. Duas versões do texto foram analisadas (uma após a instrução e outra após a conferência com a instrutora), comparando-as com os modelos de introdução de Swales (2004) e de Samraj (2002) ensinados no curso. O aluno apresentou os seguintes problemas: a narração como modo de organização retórica do texto, a ausência do movimento 2 dos modelos, uma escolha inadequada de léxico. A combinação desses elementos impediu que o texto apresentasse o valor cultural do gênero textual artigo acadêmico - a autopromoção. Os dados suscitam questionamentos sobre os limites da descrição empírica dos gêneros textuais e de seu ensino.

Tecendo a colcha de retalhos: a bricolagem como alternativa para a pesquisa educacional

A intensidade das mudanças sociais em curso colocou em xeque o legado da modernidade. As verdades elaboradas pela ciência moderna têm sofrido fortes abalos. Até mesmo o modo de produzir conhecimentos é questionado nos tempos atuais. Dentre as alternativas emergentes, encontra-se a bricolagem. Os bricoleurs apelam para uma variedade de métodos, instrumentos e referenciais teóricos que lhes possibilitem acessar e tecer as interpretações de diferentes origens. Impulsionados pelos Estudos Culturais, denunciam as relações de poder que influenciam os discursos científicos postos em circulação. O presente artigo discute os pressupostos e procedimentos metodológicos e oferece um exemplo de uma pesquisa educacional inspirada na bricolagem.

A 2-D guinea pig lung proteome map

Guinea pigs represent an important model for a number of infectious and non-infectious pulmonary diseases. The guinea pig genome has recently been sequenced to full coverage, opening up new research avenues using genomics, transcriptomics and proteomics techniques in this species. In order to further annotate the guinea pig genome and to facilitate future pulmonary proteomics in this species we constructed a 2-D guinea pig proteome map including 486 protein identifications and post translational modifications (PTMs). The map has been up-loaded to the UCD 2D-PAGE open access database (http://proteomics-portal.ucd.ie/). Transit peptides, N-terminal acetylations and other PTMs are available via Peptideatlas (ftp://PASS00619:NM455hi@ftp.peptideatlas.org/). This dataset is associated with a research article published in the Journal of Proteomics [1].

Análisis de las prácticas de promoción social del Mayor de Bolívar : hacia la construcción de saberes desde la investigación activa participativa

A partir de la siguiente pregunta: ¿cómo retroalimentar las prácticas del programa de tecnología en promoción social del colegio mayor de bolívar, para la construcción de saberes desde el conocimiento de lo cotidiano?, Surge el objetivo central del presente artículo que consiste en: analizar las prácticas profesionales del programa de promoción social del colegio mayor de bolívar, para la consolidación de la investigación acción participativa, en aras de enriquecer el currículo y las prácticas pedagógicas, permitiendo recrear y fortalecer procesos instituidos, y detectar vacíos o limitaciones. Ello indica que se fundamentará con postulados teóricos de autores como orlando fals borda, para la comprensión de la iap y ezequiel ander egg para la interpretación del concepto de asistencialismo entre otros. El itinerario metodológico, se acoge al paradigma interpretativo-fenomenológico, en torno a la estrategia cualitativa: inductiva-deductiva. Tendrá inicialmente actividades de análisis de documentación, específicamente referente a los documentos institucionales, además de la implementación de entrevistas y la revisión de la bibliografía con la cual se fundamentará teóricamente la investigación. Se trata de generar dudas y reflexiones acerca la importancia del fortalecimiento de la actividad investigativa en programas tecnológicos, en contra de lo que podría convertirse en procesos asistencialistas.