Clinical syndromes associated with Coenzyme Q10 deficiency.

Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level. The associated clinical manifestations are highly heterogeneous and mainly affect central and peripheral nervous system, kidney, skeletal muscle and heart. Genotype-phenotype correlations are difficult to establish, mainly because of the reduced number of patients and the large variety of symptoms. In addition, mutations in the same COQ gene can cause different clinical pictures. Here, we present an updated and comprehensive review of the clinical manifestations associated with each of the pathogenic variants causing primary CoQ deficiencies

Revisiting the mechanism of the mono nuclear copper-catalyzed cycloaddition of azide and alkynes (CuAAC) by the topology of ....

Comunicación presentada y aceptada en el CHITEL2013, XXXIX International Conference THEORETICAL CHEMISTS OF LATIN EXPRESSION (XXXIX Congreso Internacional de Químicos de Expresión Latina).Se analiza el mecanismo de la reacción de cicloadición, catalizada por Cu(I), de azidas a alquinos (CuAAC), haciendo uso de métodos DFT y de herramientas de análisis de la densidad electrónica basadas en la topología de su laplaciana

Assessing the Effectiveness of a Quality Improvement Intervention to Decrease Missed Opportunities for Human Papillomavirus Vaccination at a Nurse Managed Health Center

Purpose: To decrease the number of missed opportunities for human papillomavirus vaccine eligible patients seeking healthcare in a Nurse Managed Health Center. Background & Significance: Human papillomavirus genital infection has inflicted nearly 79 million Americans. Annually, about 14 million newly infected individuals are identified, with noted predominance in teens and young adults, and of this number approximately 19,200 females and 11,600 males receive a cancer diagnosis as a result of the human papillomavirus infection. The incidence of infections can be reduced with a human papillomavirus vaccine, but only about 63% of females and even fewer males initiate the human papillomavirus vaccine. Methods: A Nurse Managed Health Center assisting the underserved population, in a major southwestern metropolitan city was chosen to implement a Qualified Patient Prompter tool used to screen for human papillomavirus eligibility in all patients seeking healthcare in this Nurse Managed Health Center. A reminder card strategy was used at the end of the accepted human papillomavirus vaccine visit. Results: 334 patient records were reviewed and 135 were eligible to receive the human papillomavirus vaccine; 60 opted to receive it and 75 declined. Conclusion: A 100% of all patients seen were evaluated for human papillomavirus vaccine eligibility. The intervention decreased missed opportunities by 100%. Continued efforts will focus on increasing human papillomavirus vaccine acceptance rates. The Nurse Managed Health Center fully support the continued use of the Qualified Patient Prompter, which was effective within this population

Sequential non-rigid structure from motion using physical priors

© 20xx IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other uses, in any current or future media, including reprinting/republishing this material for advertising or promotional purposes, creating new collective works, for resale or redistribution to servers or lists, or reuse of any copyrighted component of this work in other works.We propose a new approach to simultaneously recover camera pose and 3D shape of non-rigid and potentially extensible surfaces from a monocular image sequence. For this purpose, we make use of the Extended Kalman Filter based Simultaneous Localization And Mapping (EKF-SLAM) formulation, a Bayesian optimization framework traditionally used in mobile robotics for estimating camera pose and reconstructing rigid scenarios. In order to extend the problem to a deformable domain we represent the object's surface mechanics by means of Navier's equations, which are solved using a Finite Element Method (FEM). With these main ingredients, we can further model the material's stretching, allowing us to go a step further than most of current techniques, typically constrained to surfaces undergoing isometric deformations. We extensively validate our approach in both real and synthetic experiments, and demonstrate its advantages with respect to competing methods. More specifically, we show that besides simultaneously retrieving camera pose and non-rigid shape, our approach is adequate for both isometric and extensible surfaces, does not require neither batch processing all the frames nor tracking points over the whole sequence and runs at several frames per second.Peer ReviewedPostprint (author's final draft

Análisis de la relación entre las dimensiones del WISC-IV y el test de la mirada en población infantil y adolescentes con TEA de alto funcionamiento.

El autismo es un síndrome conductual que engloba un grupo de trastornos neuropsiquiátricos con unas características clínicas comunes, pero de difícil categorización etiológica y diagnóstica. El objetivo general de la presente Tesis Doctoral es el estudio de la relación entre el cociente cognitivo total y los diferentes subtests del test de inteligencia WISC-IV y los resultados obtenidos en el Reading the Mind in the Eye Test (RMET) en niños y adolescentes con diagnóstico de síndrome de Asperger. En un primer estudio empírico se realiza una exhaustiva revisión bibliográfica sobre la relación entre el cociente de inteligencia total, verbal y manipulativa y el rendimiento en el RMET. Los resultados obtenidos en este estudio demuestran que existe una diferencia importante entre los individuos diagnosticados dentro del trastorno generalizado del desarrollo y los diagnosticados de síndrome de Asperger, sugiriendo la necesidad de hacer una separación en los diagnósticos clínicos dentro de los individuos con clínica compatible con el espectro autista. Por ello para completar el estudio, en un segundo estudio empírico se ha evaluado y caracterizado mediante un estudio descriptivo y comparativo transversal, una cohorte de 84 niños y adolescentes diagnosticados de síndrome de Asperger. Se ha realizado una evaluación de su cociente intelectual total y de los diferentes subtests del test de inteligencia WISC-IV para niños y adolescentes y la realización del RMET versión para niños. En este estudio se ha demostrado una débil correlación positiva entre el RMET y la inteligencia cognitiva total, el razonamiento perceptivo, la memoria de trabajo y la comprensión verbal pero no con la velocidad de procesamiento. Estos resultados son consistentes con los encontrados en el primer estudio de esta Tesis Doctoral, en el que se encontró una débil correlación positiva entre la inteligencia cognitiva total y el RMET en individuos diagnosticados con síndrome de Asperger. Estos resultados sugieren que, al existir una correlación débil entre el rendimiento en el RMET y la inteligencia cognitiva total, funcionarían de manera independiente en estos individuos. Por tanto, teniendo en cuenta el objetivo general de la presente Tesis Doctoral y tras haber focalizado el estudio en niños y adolescentes con diagnóstico de síndrome de Asperger, se ha observado que los resultados difieren mucho al analizar por separado esta nosología del resto de los trastornos del espectro autista. A su vez, podemos concluir que el RMET y el cociente de inteligencia total funcionan de forma independiente en estos individuos, por lo que se debería tener en cuenta en futuros estudios de investigación que incluyan participantes con síndrome de Asperger

Mathematical analysis and numerical methods for pricing pension plans allowing early retirement

In this paper, we address the mathematical analysis and numerical solution of a model for pricing a defined benefit pension plan. More precisely, the benefits received by the member of the plan depend on the average salary and early retirement is allowed. Thus, the mathematical model is posed as an obstacle problem associated to a Kolmogorov equation in the time region where the salary is being averaged. Previously to the initial averaging date, a nonhomogeneous one factor Black-Scholes equation is posed. After stating the model, existence and regularity of solutions are studied. Moreover, appropriate numerical methods based on a Lagrange-Galerkin discretization and an augmented Lagrangian active set method are proposed. Finally, some numerical examples illustrate the performance of the numerical techniques and the properties of the solution and the free boundary.retirement plans, options pricing, Kolmogorov equations, complementarity problem, numerical methods, augmented Lagrangian formulation

Real-time 3D reconstruction of non-rigid shapes with a single moving camera

© . This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/This paper describes a real-time sequential method to simultaneously recover the camera motion and the 3D shape of deformable objects from a calibrated monocular video. For this purpose, we consider the Navier-Cauchy equations used in 3D linear elasticity and solved by finite elements, to model the time-varying shape per frame. These equations are embedded in an extended Kalman filter, resulting in sequential Bayesian estimation approach. We represent the shape, with unknown material properties, as a combination of elastic elements whose nodal points correspond to salient points in the image. The global rigidity of the shape is encoded by a stiffness matrix, computed after assembling each of these elements. With this piecewise model, we can linearly relate the 3D displacements with the 3D acting forces that cause the object deformation, assumed to be normally distributed. While standard finite-element-method techniques require imposing boundary conditions to solve the resulting linear system, in this work we eliminate this requirement by modeling the compliance matrix with a generalized pseudoinverse that enforces a pre-fixed rank. Our framework also ensures surface continuity without the need for a post-processing step to stitch all the piecewise reconstructions into a global smooth shape. We present experimental results using both synthetic and real videos for different scenarios ranging from isometric to elastic deformations. We also show the consistency of the estimation with respect to 3D ground truth data, include several experiments assessing robustness against artifacts and finally, provide an experimental validation of our performance in real time at frame rate for small mapsPeer ReviewedPostprint (author's final draft

Intramolecular [3+2] Cycloaddition of Fused Azolo-Azepanes from Azido Monosaccharides Derivatives

Síntesis de bicíclicos compuestos empleando epoxiamidas como material de partida. Obtención de tetrazolo azepanos con posible actividad biológica.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech