Plan PrEFiNE: Plan estratégico para la enfermedad de Fabry en Nefrología

Background Renal failure is one of the main causes of death in patients with Fabry disease (FD). Due to the low prevalence of FD, delayed diagnosis and misdiagnosis, often the correct diagnosis is made when organ damage is already present. Early recognition of the disease would allow the prevention of severe complications and the premature death of patients with FD. Objective We present here the PrEFiNE project, which includes a wide spectrum of activities with the aim of improve knowledge and diagnosis of FD. The project is sponsored by Shire Iberia (http://shireiberica.com/) Methods From January 2016 to the end of 2017 several activities will be carried out, starting with a survey to evaluate current FD knowledge among nephrologists; in addition some studies to assess prevalence of this disease will be performed. One study will include patients receiving dialysis, another study will cover kidney transplant patients, and a pilot study in chronic kidney disease in stage 3-5 predialysis. Also planned is a pharmacoeconomic study to focus on burden of FD. At the same time medical education activities will be conducted both on line and on site. Plan for dissemination will include medical publications and diffusion to media. PrEFiNE Project will finish with the publication of a compilation book on FD in Nephrology including all planned activities and proposing recommendations based on results and detected unmet needs. PrEfiNE Plan will be coordinated by severa scientific committees, one at national level and 10 other regionals comittees, tha will be responsible to ensure the maximum scientific quality of proposed activities. An advisory board will supervise the project. Discussion PrEfiNE project will evaluate an action plan focused on improving FD knowledge to make necessary recommendations for an early recognition of the disease. In addition will generate a plan to improve previously undetected needs.Justificación: La enfermedad renal es una de las principales causas de muerte entre los pacientes con enfermedad de Fabry (EF). Al tratarse de una enfermedad de baja prevalencia, se realizan con frecuencia diagnósticos erróneos y retrasados, que a menudo se dan cuando ya se ha producido dan˜ o orgánico. El reconocimiento temprano de la enfermedad permitiría evitar las complicaciones graves y la muerte prematura en estos pacientes. Objetivo: Presentamos en este artículo un resumen del plan PrEFiNE, que incluye un abanico amplio de actividades con el objetivo de mejorar el conocimiento y reconocimiento de la EF entre los nefrólogos. Este proyecto está patrocinado por Shire Ibérica (http://shireiberica.com/). Métodos: Desde enero de 2016 y hasta finales del 2017 se iniciarán distintas actividades, comenzando por una evaluación del grado de conocimiento que existe actualmente sobre la EF. Se incluyen 3 estudios de prevalencia de la EF, que abarcan el espectro de los pacientes con enfermedad renal crónica (pacientes en diálisis, pacientes trasplantados renales y un estudio piloto en pacientes con enfermedad renal crónica en estadio 3–5 prediálisis) y un estudio farmacoeconómico, centrado en el impacto de la carga de la enfermedad. Parale- lamente, se realizarán actividades formativas tanto presenciales como on line, y un amplio plan de comunicación mediante publicaciones y difusión a medios. El proyecto culminará con la publicación de un libro blanco de la EF en Nefrología, que recoja el resultado de todas las actividades y que proponga recomendaciones en respuesta a los resultados y a las necesidades detectadas. El plan PrEFiNE estará coordinado por distintos comités científicos, uno nacional y 10 regionales que garantizarán el desarrollo de las acciones con el máximo rigor científico y será supervisado por un comité asesor. Discusión: El plan PrEFiNE nos permitirá evaluar la utilidad de un proyecto dirigido a mejorar el conocimiento de una enfermedad minoritaria como la EF a nivel nacional, y a partir del cual se podrán establecer las recomendaciones necesarias para mejorar su reconocimiento, además de planes enfocados a mejorar las necesidades no cubiertas detectadas durante su desarroll

Varied nanostructures from a single multifunctional molecular material

The control of the morphology of nanostructures formed from a single component molecular material incorporating electron accepting and donating moieties is shown, from both solution and gel states. The compound comprises one tetrathiafulvalene (TTF) and two pyrene units which act as the [small pi]-electron rich and deficient units, respectively, and which are united by amide-containing linkers whose additional role is to aide aggregation by hydrogen bonding. This role was demonstrated by IR and NMR spectroscopy. The gels were deposited onto surfaces and the solvent allowed to evaporate, leaving films formed by meshes of fibres with different morphologies in accord with the different solvents used to form the materials. Doping of these xerogels with iodine vapour afforded conducting films whose characteristics were probed with current sensing atomic force microscopy (CS-AFM), providing current maps and I-V curves which show how dramatically the processing solvent can influence the electronic properties of these xerogel-derived materials

Stationary solutions of the nonlinear Schr\"odinger equation with fast-decay potentials concentrating around local maxima

We study positive bound states for the equation $$- \epsilon^2 \Delta u + Vu = u^p, \qquad \text{in $\mathbf{R}^N$},$$ where $\epsilon > 0$ is a real parameter, $\frac{N}{N-2} < p < \frac{N+2}{N-2}$ and $V$ is a nonnegative potential. Using purely variational techniques, we find solutions which concentrate at local maxima of the potential $V$ without any restriction on the potential.Comment: 25 pages, reformatted the abstract for MathJa

Gradient flows and instantons at a Lifshitz point

I provide a broad framework to embed gradient flow equations in non-relativistic field theory models that exhibit anisotropic scaling. The prime example is the heat equation arising from a Lifshitz scalar field theory; other examples include the Allen-Cahn equation that models the evolution of phase boundaries. Then, I review recent results reported in arXiv:1002.0062 describing instantons of Horava-Lifshitz gravity as eternal solutions of certain geometric flow equations on 3-manifolds. These instanton solutions are in general chiral when the anisotropic scaling exponent is z=3. Some general connections with the Onsager-Machlup theory of non-equilibrium processes are also briefly discussed in this context. Thus, theories of Lifshitz type in d+1 dimensions can be used as off-shell toy models for dynamical vacuum selection of relativistic field theories in d dimensions.Comment: 19 pages, 1 figure, contribution to conference proceedings (NEB14); minor typos corrected in v

Plus ça change : pots, crucibles and the development of metallurgy in Chalcolithic Las Pilas (Mojácar, Spain)

This paper considers the structure of production, distribution and consumption of ceramics within Chalcolithic communities of SE Iberia, an important region for modelling social and technological change in the recent prehistory of Eurasia. Our research provides new data through the comparative analysis of domestic and metallurgical ceramics, as well as building and other clay-rich materials from the archaeological site of Las Pilas (2875–2620 cal. BC 2σ to 2460–2205 cal. BC 2σ) (Mojácar, Almería). In total, 56 samples are characterised by optical petrography, with SEM analysis of 22 of those individuals, in order to assess firing conditions. Results point to the existence of a local tradition in which domestic and metallurgical wares exhibit important similarities in their production processes. In terms of technology, the assemblage shows a relative homogeneity, although firing conditions, surface treatment and decoration seem to have played an important role in the differentiation of highly symbolic wares from other ceramics. We conclude that raw material procurement and processing at Las Pilas differ from those at other Copper Age sites already studied in SE and SW Iberia. This is in agreement with earlier archaeometallurgical studies on Las Pilas, suggesting the development of local and community-based technological traditions. As such, the paper attempts to bridge the recent divide between re-emergent top-down models and our detailed understandings of technological practice

Algunas reflexiones sobre la relación entre el uso de resolución de problemas como estrategia metodológica para la enseñanza de ciencias en la educación primaria y los cambios de comportamiento del grupo en estudio

Este trabajo presenta algunas reflexiones sobre el proceso de elaboración de actividades metodológicas que constituyen una propuesta pedagógica alternativa a la transmisión de conocimientos, con paradigmas constructivistas, en la que se ha procurado repensar el papel del alumno, el del profesor y la socialización del grupo en las clases de ciencias de 8º grado de la enseñanza básica. Por medio de la construcción de un currículo flexible, estructurado a partir de las necesidades e intereses de los alumnos y de los conceptos fundamentales indicados por la profesora, se organizaron cinco unidades temáticas de estudio, constituidas por diferentes actividades -entre las cuales diez resoluciones de problemas- desarrolladas a lo largo del año lectivo de 2007 y que posibilitaron cambios positivos en el comportamiento del grupo estudiado.Palabras clave: Enseñanza de ciencias; resolución de problemas; constructivismo, currículo de cienciasThe use of problem solving as methodological strategy for the teaching of sciences in basic education and the behavioral changes of the group under studyThe present work is the result of a case study performed in a state school of Rio Grande do Sul, Brazil, with 30 students of the 8th grade of the basic education, during the school year of 2007, where the Science full teacher and postgraduate at UFRGS did her research. The proposal developed aimed to substitute the knowledge transmission for a methodology based on constructivism, leveraging the problem solving, among other activities, to rethink the student’s and the teacher’s role, and the group’s socialization. From the construction of a flexible syllabus, backed up by subjects in which the students showed interest, and the fundamental concepts indicated by the teacher, the planning of six thematic units was structured, which were constituted of different activities, totaling ten problem solving activities. In this way, this article presents some reflections on the process of creating methodological activities, its difficulties and achievements, besides the changes occurred in relation to the behavior of the group under study because of the new requirements resulting from the proposal.Keywords: Science teaching; problem solving; constructivism; Science syllabus

Sign-changing tower of bubbles for a sinh-Poisson equation with asymmetric exponents

Motivated by the statistical mechanics description of stationary 2D-turbulence, for a sinh-Poisson type equation with asymmetric nonlinearity, we construct a concentrating solution sequence in the form of a tower of singular Liouville bubbles, each of which has a different degeneracy exponent. The asymmetry parameter $\gamma\in(0,1]$ corresponds to the ratio between the intensity of the negatively rotating vortices and the intensity of the positively rotating vortices. Our solutions correspond to a superposition of highly concentrated vortex configurations of alternating orientation; they extend in a nontrivial way some known results for $\gamma=1$. Thus, by analyzing the case $\gamma\neq1$ we emphasize specific properties of the physically relevant parameter $\gamma$ in the vortex concentration phenomena

The diagnostic value of pleural fluid homocysteine in malignant pleural effusion

Background Pleural fluid homocysteine (HCY) can be useful for diagnosis of malignant pleural effusion (MPE). There are no published studies comparing the diagnostic accuracy of HCY with other tumour markers in pleural fluid for diagnosis of MPE. The aim was to compare the accuracy of HCY with that of carcinoembryonic antigen (CEA), cancer antigen (CA) 15.3, CA19.9 and CA125 in pleural fluid and to develop a probabilistic model using these biomarkers to differentiate benign (BPE) from MPE. Methods Patients with pleural effusion were randomly included. HCY, CEA, CA15.3, CEA19.9 and CA125 were quantified in pleural fluid. Patients were classified into two groups: MPE or BPE. By applying logistic regression analysis, a multivariate probabilistic model was developed using pleural fluid biomarkers. The diagnostic accuracy was determined by receiver operating characteristic (ROC) curves and calculating the area under the curve (AUC). Results Population of study comprised 133 patients (72 males and 61 females) aged between 1 and 96 years (median = 70 years), 81 BPE and 52 MPE. The logistic regression analysis included HCY (p< 0.0001) and CEA (p = 0.0022) in the probabilistic model and excluded the other tumour markers. The probabilistic model was: HCY+CEA = Probability(%) = 100x( 1 +e(-z))(-1), where Z = 0.5471x[ HCY]+0.3846x[ CEA]-8.2671. The AUCs were 0.606, 0.703, 0.778, 0.800, 0.846 and 0.948 for CA125, CA19.9, CEA, CA15.3, HCY and HCY+CEA, respectively. Conclusions Pleural fluid HCY has higher accuracy for diagnosis of MPE than CEA, CA15.3, CA19.9 and CA125. The combination of HCY and CEA concentrations in pleural fluid significantly improves the diagnostic accuracy of the test

On the structure of phase transition maps for three or more coexisting phases

This paper is partly based on a lecture delivered by the author at the ERC workshop "Geometric Partial Differential Equations" held in Pisa in September 2012. What is presented here is an expanded version of that lecture.Comment: 23 pages, 6 figure