A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance

Impacto da nutrição enteral na toxicidade aguda e na continuidade do tratamento dos pacientes com tumores de cabeça e pescoço submetidos a radioterapia com intensidade modulada

OBJETIVO: Analisar o impacto da terapia nutricional enteral na manutenção do peso corpóreo e na necessidade de replanejamento e/ou interrupção da radioterapia em pacientes com câncer de cabeça e pescoço submetidos a radioterapia de intensidade modulada (IMRT). MATERIAIS E MÉTODOS: Foram analisados, retrospectivamente, os pacientes submetidos a IMRT entre janeiro de 2005 e outubro de 2008, com a inclusão de 83 casos. RESULTADOS: A idade mediana foi de 58,6 anos. Em apenas em cinco pacientes (6%) houve interrupção do tratamento, que variou de 4 a 18 dias, e em 19 casos (23%) houve necessidade de replanejamento. A terapia nutricional enteral foi instituída antes do início da radioterapia em 16 pacientes (19%). Perda de peso > 5% ocorreu em 58 casos (70%), sendo mais prevalente no grupo de pacientes em que a terapia nutricional enteral não foi instituída pré-radioterapia. Na comparação entre os grupos não houve diferença significativa na realização de replanejamento (25% versus 21%; p = 0,741) ou na ocorrência e duração da interrupção da radioterapia. CONCLUSÃO: A terapia nutricional enteral tem um claro ganho na manutenção do peso corporal, porém, não houve um benefício na realização da gastrostomia percutânea endoscópica ou da sonda nasoenteral em relação à interrupção e ao replanejamento da radioterapia.

Naiset, miehet, asiat ja arvot

Kirjallisuutta

Preferência do paciente no rastreamento do câncer colorretal: uma comparação entre colonografia por tomografia computadorizada e colonoscopia

OBJETIVO: Avaliar o grau de aceitação do paciente submetido a colonografia por tomografia computadorizada (CTC) em comparação com a colonoscopia, quando realizadas para rastreamento de doença colorretal. MATERIAIS E MÉTODOS: Cinquenta pacientes com suspeita de doença colorretal foram submetidos a CTC e colonoscopia. Questionários foram aplicados antes e após a realização da CTC e após a colonoscopia. Graduou-se o desconforto esperado e experimentado antes e após a realização da CTC e da colonoscopia, bem como a preferência do paciente por exame. RESULTADOS: Em relação à CTC, antes de iniciar o exame 18% dos pacientes afirmaram esperar pouco desconforto, 78%, desconforto moderado e 4%, muito desconforto. Após a realização do exame, 72% dos pacientes relataram pouco desconforto, 26%, desconforto moderado e apenas um (2%) dos pacientes referiu muito desconforto. Após a realização da colonoscopia, 86% dos pacientes relataram preferência pela CTC. O grau de distensão colônica e a quantidade de fluido residual não influenciaram na preferência dos pacientes. CONCLUSÃO: Os pacientes preferiram a CTC à colonoscopia, não havendo relação estatística com o grau de distensão colônica na CTC e a eficiência do preparo intestinal.

Flush, de Virginia Woolf, en Català i la carrera literària de Roser Cardús

Flush (1933), de Virginia Woolf, protagonitzada pel gos de la poeta Elisabeth Barrett Browning, es va traduir al català cinc anys després, a Edicions de la Rosa dels Vents, quan encara es podia veure a la cartellera barcelonina la pel·lícula que narrava la història del matrimoni de poetes Browning, The Barrets of Wimpole Street, estrenada l�any 1934 i dirigida per Sidney Franklin. També havia arribat a Catalunya la traducció francesa de Charles Mauron, publicada l�any 1935. Això va fer que l�any 1938, malgrat el conflicte bèl·lic, hi hagués un context de recepció propici a aquesta traducció, encarregada per l�editor Josep Janés i Oliver. En aquest article donem a conèixer qui era la noia de divuit anys que va realitzar la traducció al català a partir de la traducció francesa, Roser Cardús i Malagarriga (1920-1974), i en descrivim la carrera com a escriptora i com a traductora.

Avaliação de filtros domésticos comerciais para purificação de águas e retenção de contaminantes inorgânicos

Twenty domestic commercial filters, in order to determine the percentual retention of color, turbidity, dry residue, bicarbonates, carbonates, total hardness, nitrogens, iron, chlorides, fluorides, and residual chlorine (parameters of food legislation) and sulphides in thirteen water samples proceeding from springs, wells, rivers, lakes, drinking patterns and standards, before and after purification were evaluated. The results showed that purifiers presented adequate retention for nitrates (74.8 ± 16.2 %) and residual chlorine (74.0 ± 11.2) and medium retention for sulphides (61.7 ± 11.3); while porcelain plus activated carbon filters presented adequate retention for color (90.0 ± 19.7), turbidity (76.4 ± 18.4) and iron (83.5 ± 15.1). Therefore the retention of carbonates, bicarbonates, total hardness, chlorides, dry residue, fluorides, ammonium nitrogens and nitrites was less than 10%, and the values of pH didn't show significant variation, for all the filters studied.

Assessment of research competences using e-portfolio

The challenges posed by the assessment of distance learning is a topic that requires, on the one hand, evolution with new trends and, on the other improving evaluative processes, to promote good practices. This demand becomes more imperative when we are dealing with a formativescenario based on distance assessment of competence-based learning.The Open University of Catalonia has begun to work with these formative tools, promoting new practices for online education. A very clear example of these educational practices is the assessment of research competences using the e-portfolio system. To meet this aim a profound and solid process has been developed over recent years, with the intention of making this tool an assessment alternative, and providing the opportunity to use it in a formative context. The objective is to study its strengths and limitations keeping in mind the final goal of offering the higher education community a validated assessment system.

The practical application of e-Portfolio at the Open University of Catalonia : assessment of competence based learning

The paper presents the results of the piloting or pilot test in a virtual classroom. This e-portfolio was carried out in the 2005-2006 academic year, with students of the Doctorate in Information Society, at the Open University of Catalonia. The electronic portfolio is a strategy for competence based assessment. This experience shows the types of e-portfolios, where students show their work without interactions, and apply the competence-based learning theories in an interactive portfolio system. The real process of learning is developed in the competency based system, the portfolio not only is a basic bio document, has become a real space for learning with competence model. The paper brings out new ideas and possibilities: the competence-based learning promotes closer relationships between universities and companies and redesigns the pedagogic act.

Metais pesados em águas superficiais como estratégia de caracterização de bacias hidrográficas

The input of heavy metals concentrations determinated by ICP-AES, in samples of the Cambé river basin, was evaluated by using the Principal Component Analysis. The results distinguishes clearly one site, which is strongly influenced by almost all elements studied. Special attention was given to Pb, because of the presence of one battery industry in this area. Some downstream samples were associated with the same characteristics of this site, showing residual action of contaminants along the basin. Other sites presented influence of soil elements, plus Cr near a tannery industry. This study allowed to distinguish different sites in the upper basin of the Cambé (Londrina-PR-BR), in accordance to elements input.

Termodinâmica estatística de líquidos com o método de Monte Carlo. I. Metodologia

Statistical mechanics Monte Carlo simulation is reviewed as a formalism to study thermodynamic properties of liquids. Considering the importance of free energy changes in chemical processes, the thermodynamic perturbation theory implemented in the Monte Carlo method is discussed. The representation of molecular interaction by the Lennard-Jones and Coulomb potential functions is also discussed. Charges derived from quantum molecular electrostatic potential are also discussed as an useful methodology to generate an adequate set of partial charges to be used in liquid simulation.

Termodinâmica estatística de líquidos com o método de Monte Carlo. II. O líquido clorofórmio

Thermodynamic properties and radial distribution functions for liquid chloroform were calculated using the Monte Carlo method implemented with Metropolis algorithm in the NpT ensemble at 298 K and 1 atm. A five site model was developed to represent the chloroform molecules. A force field composed by Lennard-Jones and Coulomb potential functions was used to calculate the intermolecular energy. The partial charges needed to represent the Coulombic interactions were obtained from quantum chemical ab initio calculations. The Lennard-Jones parameters were adjusted to reproduce experimental values for density and enthalpy of vaporization for pure liquid. All thermodynamic results are in excelent agreement with experimental data. The correlation functions calculated are in good accordance with theoretical results avaliable in the literature. The free energy for solvating one chloroform molecule into its own liquid at 298 K and 1 atm was computed as an additional test of the potential model. The result obtained compares well with the experimental value. The medium effects on cis/trans convertion of a hypotetical solute in water TIP4P and chloroform solvents were also accomplished. The results obtained from this investigation are in agreement with estimates of the continuous theory of solvation.

Coneixement i gestió del dol patològic per part dels infermers/es a l'atenció primària de Girona

Per entendre l’experiència d’una pèrdua i dur a terme una intervenció amb una valoració holística del pacient amb dol, és útil conèixer que aquesta pèrdua és present a la vida humana i que tota persona és susceptible a viure-la. Cada pas que fem en el nostre camí perdem coses, des de persones a un objecte significatiu, fins a les coses més efímeres com és la joventut, els somnis o les idees que ens permeten l’enfrontament a les dures “realitats de la vida”L’objectiu d’aquest estudi és valorar el coneixement del concepte de dol, dol patològic i dóna a conèixer quin és el procés de dol a partir de la teoria de les etapes d’ Elisabet Kübler-Ross, Parkes i Worden com els pares de les tasques d’aquest procés. Per altra banda pretén, donar a conèixer la detecció d’un dol per així evitar la cronificació d’aquest i que el pacient pugui dur a terme un bonacompanyament del dolLa metodologia es realitzarà a partir d’un estudi d’anàlisis qualitatiu i quantitatiu, descriptiu i bivariant en els professionals d’infermeria de les àrees bàsiques de salut de la ciutat de Girona: Girona 1(CAP Santa Clara), Girona 2 (CAP Can Gibert del Pla), Girona 3 (CAP de Montilivi) i Girona 4(CAP Taialà)Per l’anàlisi estadística descriptiva i bivariant s’utilitzarà el programa SPSS v20 per l’anàlisi quantitativa i el programa N-Vivo 10 per l’anàlisi qualitativa. I per l’obtenció dels resultats es realitzarà una anàlisis descriptiva bivariant. Els resultats obtinguts en aquest estudi ens ajudaran a detectar necessitats relacionades amb la formació i l’aprenentatge dels professionals de l’atenció primària i la manca de recursos en relació al dol