Síndrome de Gorlin

[ES]El síndrome de Gorlin es una enfermedad infrecuente de herencia autosómica dominante producida por mutaciones en genes de la vía de señalización Sonic Hedgehog, entre los que destaca PTCH1. Se caracteriza por el desarrollo de múltiples carcinomas basocelulares en edades tempranas, que pueden ir asociados a otras manifestaciones cutáneas como pits palmoplantares, o a manifestaciones extracutáneas, entre las que destacan los queratoquistes odontogénicos y el meduloblastoma. El papel del dermatólogo es importante en la sospecha de este síndrome, pero suele ser necesario un equipo multidisciplinar en el diagnóstico, seguimiento y en el tratamiento de estos pacientes. El tratamiento dermatológico puede ser complicado debido al alto número de carcinomas basocelulares y a su extensión. En los últimos años se han desarrollado nuevos fármacos que inhiben la vía Sonic Hedgehog y parecen prometedores para estos pacientes, aunque su eficacia está limitada por los efectos secundarios y la creación de resistencias.[EN]Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement

Tsunami wave interaction with mangrove forests: A 3-D numerical approach

ABSTRACT: A three dimensional numerical approach based on IHFOAM to study the interaction of tsunami waves with mangrove forest is presented. As a first approximation, the problem is modelled by means of solitary waves impinging on emergent rigid cylinders. Two different conceptual approaches are implemented into IHFOAM. Solving the URANS equations provides a direct simulation of the flow field considering the actual geometry of the array of cylinders. A modified version of the volume-average URANS equations by introducing a drag force to model the momentum damping created by the cylinders is used in the second approach. Both the direct and macroscopic simulations are validated against laboratory experiments for wave damping with very high agreement. A large set of numerical experiments to analyse flow parameters and uniform and random cylinder array distributions are analysed and use to compare pros and cons of the different approaches. Large differences are found in the forces exerted on the vegetation for uniform and random distributions. Generalizations obtained from uniform arrangements could lead to underestimation of wave-exerted forces, especially for low dense configurations. Wave forces calculated with the macroscopic approach by means of the drag coefficient yields clear underestimations.M. Maza is indebted to the MEC (Ministerio de Educación, Cultura y Deporte, Spain) for the funding provided in the FPU (Formación del Profesorado Universitario) studentship (BOE-A-2012-6238). This work has been partially funded under the RETOS program of the Spanish Ministry of Economy and Competitiveness (BIA2014-59718)

Flow Interaction with Natural Structures: a Case Study of a Model

This work has been funded under the RETOS INVESTIGACION 2014 (grant BIA2014-59718-R) program of the Spanish Ministry of Economy and Competitiveness. M. Maza is indebted to the Spanish Ministry of Science, Innovation and Universities for the funding provided in the grant Juan de la Cierva Incorporación (BOE de 27/10/2017)

Eficacia de un programa para el tratamiento del sobrepeso y la obesidad no mórbida en atención primaria y su influencia en la modificación de estilos de vida

Introducción y Objetivos: la modificación de conductas no saludables es fundamental para tratar la obesidad. El objetivo de este estudio fue evaluar los efectos de un programa basado en dieta, ejercicio y apoyo psicológico en la modificación conductual de pacientes con sobrepeso y obesidad tratados en Atención Primaria. Métodos: 60 pacientes con sobrepeso grado II y obesidad grado I-II fueron incluidos en este ensayo piloto. Edad entre 18-50 años. Los pacientes recibieron un programa que combinaba educación nutricional, actividad física y apoyo psicológico. Formato grupal, periodicidad quincenal. Los principales resultados medidos al inicio y 6 meses fueron parámetros antropométricos (índice de masa corporal, porcentaje de masa grasa, perímetro cintura) y de estilos de vida usando el Cuestionario para la valoración de hábitos de vida relacionados con el sobrepeso y la obesidad. Consta de 5 dimensiones: contenido calórico de la dieta (CC), alimentación saludable (AS), ejercicio físico (EF), comer por bienestar psicológico (BP) y consumo de alcohol (CA). La mayor puntuación indica mejores hábitos para CC, AS y EF y peores para BP y CA. Resultados: al final de la intervención mejoraron las escalas CC (2,60± 0,5 vs 3,49± 0,7, p<0,001), EF (2,19± 0,9 vs 3,17± 1,0, p<0,001) y AS (3,04± 0,4 vs 3,43± 0,4, p<0,05) del cuestionario; CA (3,98± 0,7 vs. 4,25± 0,7, p<0,05) y BP (2,82± 1,0 vs. 3,34± 0,7, p<0,001) empeoraron. Conclusión: el programa basado en moderada restricción de la dieta, aumento de actividad física y apoyo psicológico puede mejorar parámetros antropométricos y estilos de vida en pacientes obesos tratados en un centro de Atención PrimariaBackground: Lifestyle intervention is fundamental for obesity treatment. The aim of this study was to evaluate the effects of a program focused on diet, exercise and psychological support on Lifestyle Modification in overweight and obese patients treated in Primary Health Care setting. Methods: 60 patients with grade II overweight and non-morbid grade I-II obesity were included in this pilot clinical trial. Ages ranged from18 to 50 years. They were provided with a program combining nutritional education, physical activity and psychological support. Subjects attended group sessions every 2 weeks. The main outcome measures at baseline and 6 months were body composition parameters (BMI, body fat percentage, waist circumference) and lifestyle intervention using the Questionnaire for the assessment of overweight and obesity related lifestyles at baseline and six months. This questionnaire yields an five dimensions: diet caloric intake (CC), healthy eating (AS), physical activity (EF), searching for psychological well-being eating (BP) and alcohol intake (CA). The higher score indicates better lifestyles for CC, AS, EF and worse for BP y CA. Results: At the end of the intervention the program achieved improvements in Questionnaire related lifestyles subscales: CC (2,60± 0,5 vs. 3,49± 0,7, p<0,001), EF (2,19± 0,9 vs. 3,17± 1,0, p<0,001) and AS (3,04± 0,4 vs. 3,43± 0,4, p<0,05); CA (3,98± 0,7 vs. 4,25± 0,7, p<0,05) and BP (2,82± 1,0 vs. 3,34± 0,7, p<0,001) has got worse. Conclusion: The Program focused on balanced and moderate energy-restricted diets, increased physical activity and psychological support may improve the anthropometric parameters and the Lifestyle intervention in obese patients treated in a primary healthcare center.Este proyecto ha sido becado por el Ministerio de Ciencia e Innovación, a través del Instituto de Salud Carlos III y la Subdirección General de Evaluación y Fomento de la Investigación, en el marco del «Subprograma de Proyectos de Investigación de Evaluación de Tecnologías Sanitarias e Investigación en servicios de salud». Convocatoria 2008 de ayudas de la Acción Estratégica en Salud, en el marco del Plan Nacional de I+D+I 2008-2011 (PI08/90357). Y por la Fundación MAPFRE, a través del programa de Ayudas a la Investigación (2009

Wave attenuation modelling by submerged vegetation: ecological and engineering analysis

The correct address of wave characteristics in the vicinity of submerged vegetation is crucial to perform an ecological analysis. Although several attempts have been done in the past using an analytical approach or depth averaged models, the rigidity of the assumptions used to solve the physics produced limited application to real cases. The use of a NS model called IH-2VOF is used first to minimize the number of predefined assumptions for wave propagation and the non-linear interactions between waves and plants and second to explore the possibility to improve existing turbulence models to consider wave interaction with vegetation. The IH2-VOF model has been validated using large scale experiments developed by Stratigaki et al. (2011). The model has shown a high degree of accordance between the lab data and the numerical predictions in free surface evolution. Numerical predictions of the velocity field have been compared both over and inside the vegetation showing also a high degree of accordance. Drag coefficients obtained during the model calibration are in accordance with previous studies such as Mendez et al. (1999). The influence of wave height, wave period, water depth and patch density have been studied using additional numerical simulations with irregular waves. Both the wave period and the water depth have been revealed as the most important parameters in the modification of the flow patterns around the patch

Wave Attenuation by Spartina Saltmarshes in the Chesapeake Bay Under Storm Surge Conditions

This material is based upon work supported by the National Fish and Wildlife Foundation and the U.S. Department of the Interior under grant 43932.This material is also based upon work supported by the National Science Foundation under grant SES‐1331399.This research was also supported in part by the Thomas F. and Kate Miller Jeffress Memorial Trust, Bank of America, Trustee. M. Maza, J.L. Lara, and I.J. Losada are indebted to the Spanish Ministry of Economy and Competitiveness for the funding provided in the RETOS INVESTIGACION 2014 (grant BIA2014‐59718‐R) grant program

Caracterización mineralógica y textural del yacimiento de zeolitas de "Los Murcianos" (Cabo de Gata, Almería). Resultados preliminares

Depto. de Mineralogía y PetrologíaFac. de Ciencias GeológicasTRUEpu

Caracterización de la protección costera proporcionada por ecosistemas naturales a partir de ensayos de laboratorio y modelado numérico

Este trabajo ha sido financiado por el programa RETOS INVESTIGACION 2014 (BIA2014-59718-R) del Ministerio de Economía y Competitividad del Gobierno de España

Reporting antimicrobial susceptibilities and resistance phenotypes in Staphylococcus spp.: a nationwide proficiency study

Objectives To evaluate the proficiency of microbiology laboratories in Spain in antimicrobial susceptibility testing (AST) of Staphylococcus spp. Materials and methods Eight Staphylococcus spp. with different resistance mechanisms were selected: six Staphylococcus aureus (CC-01/mecA, CC-02/mecC, CC-03/BORSA, CC-04/MLSBi, CC-06/blaZ and CC-07/linezolid resistant, cfr); one Staphylococcus epidermidis (CC-05/linezolid resistant, 23S rRNA mutation); and one Staphylococcus capitis (CC-08/daptomycin non-susceptible). Fifty-one laboratories were asked to report: (i) AST system used; (ii) antimicrobial MICs; (iii) breakpoints used (CLSI or EUCAST); and (iv) clinical category. Minor, major and very major errors (mEs, MEs and VMEs, respectively) were determined. Results The greatest MIC discrepancies found were: (i) by AST method: 19.4% (gradient diffusion); (ii) by antimicrobial agent: daptomycin (21.3%) and oxacillin (20.6%); and (iii) by isolate: CC-07/cfr (48.0%). The greatest error rates were: (i) by AST method: gradient diffusion (4.3% and 5.1% VMEs, using EUCAST and CLSI, respectively); (ii) by breakpoint: 3.8% EUCAST and 2.3% CLSI; (iii) by error type: mEs (0.8% EUCAST and 1.0% CLSI), MEs (1.8% EUCAST and 0.7% CLSI) and VMEs (1.2% EUCAST and 0.6% CLSI); (iii) by antimicrobial agent: VMEs (4.7% linezolid and 4.3% oxacillin using EUCAST); MEs (14.3% fosfomycin, 9.1% tobramycin and 5.7% gentamicin using EUCAST); and mEs (22.6% amikacin using EUCAST). Conclusions Clinical microbiology laboratories should improve their ability to determine the susceptibility of Staphylococcus spp. to some antimicrobial agents to avoid reporting false-susceptible or false-resistant results. The greatest discrepancies and errors were associated with gradient diffusion, EUCAST breakpoints and some antimicrobials (mEs for aminoglycosides; MEs for fosfomycin, aminoglycosides and oxacillin; and VMEs for linezolid and oxacillin)

Forces induced on a vertical breakwater by incident oblique waves

Over the last years Navier-Stokes numerical models have been developed to accurately simulate wave interaction with all kinds of coastal structures, focusing on both functionality and stability of coastal structures. Although several models have been used to simulate wave interaction with coastal structures in two dimensions (2DV) there are a vast number of three-dimensional effects that need to be investigated in order to improve the design. In this paper a new model called IH-FOAM has been applied to study a vertical breakwater at prototype scale. As a first attempt of validation, the model has been used to simulate a regular wave train generated with a relative angle with the breakwater inducing three-dimensional wave patterns not only seaward the structure due to reflection but also generating an overtopping discharge variation along the breakwater trunk. Pressure laws and overtopping discharge at three different cross-sections along the structure have been studied. The pressure laws have been compared with classical Goda’s formulation. Although, the numerical model predictions are in accordance with Goda’s calculations, a clear three-dimensional variability of wave-induced pressure has been observed. Moreover, an additional study has been performed calculating pressure laws on the side-wall at the breakwater head. Large three-dimensional effects are detected from the simulations due to the flow separation at that area. Overtopping model predictions have been compared with Overtopping Manual calculations showing very close values along the trunk. However, lower overtopping discharge values are observed at the breakwater head. This paper is a preliminary work to show the range of applicability of a three-dimensional Navier-Stokes model to study wave interaction with a vertical breakwater under the action of an oblique wave train