Commentary on "Novel Insights from Clinical Practice p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease"

n/

A possible role for the endocannabinoid system in the neurobiology of depression

The present review synthetically describes the currently advanced hypotheses for a neurobiological basis of depression, ranging from the classical monoaminergic to the more recent neurotrophic hypothesis. Moreover, the Authors review the available preclinical and clinical evidence suggesting a possible role for the endocannabinoid system in the physiopathology of depression. Indeed, in spite of the reporting of conflicting results, the pharmacological enhancement of endocannabinoid activity at the CB1 cannabinoid receptor level appears to exert an antidepressant-like effect in some animal models of depression. On the contrary, a reduced activity of the endogenous cannabinoid system seems to be associated with the animal model of depression, namely the chronic mild stress model. Moreover, a few studies have reported an interaction of antidepressants with the endocannabinoid system. With regard to clinical studies, several authors have reported an alteration of endocannabinoid serum levels in depression, while post mortem studies have demonstrated increased levels of endocannabinoids associated to a concomitant hyperactivity of CB1 receptor in the prefrontal cortex of suicide victims. No clinical trials carried out using cannabinoids in the treatment of affective disorders have been published to date, although anecdotal reports have described both antidepressant and antimanic properties of cannabis as well as the ability of cannabis to induce mania that has also been documented. These findings are discussed, leading us to conclude that, although data available are sufficient to suggest a possible involvement of the endogenous cannabinoid system in the neurobiology of depression, additional studies should be performed in order to better elucidate the role of this system in the physiopathology of depression

Compound BMPR2 gene mutations in a malignant variant of idiopathic pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH; MIM 600799) is frequently associated with concomitant diseases, including congenital heart disease. 6% of patients with PAH show a family history of the disease [hereditary PAH (HPAH)], with the major genetic determinants of HPAH being heterozygous germline mutations in the bone morphogenetic protein type II receptor (BMPR2). We present the case of a 38-year-old woman of Indian descent; initially admitted with progressive dyspnea [New York Heart Association (NYHA) class III]. The results of the proband's clinical assessments are presented here. Cardiac catheterization confirmed idiopathic PAH with severe right ventricular hypertrophy associated with pulmonary arteriopathy. Initial treatment comprised the dual endothelin receptor antagonist, bosentan, furosemide, warfarin and intravenous infusion of prostaglandin I2 (PGI2) for 3 days. Despite this, the patient died of pulmonary hemorrhagic edema and cardiogenic shock after 6 days of intensive care. After relatives' consent, post mortem assessments confirmed a diagnosis of PAH; the heart displayed significant right ventricular hypertrophy and it was particularly noted that the right atrial appendage had undergone extreme dilation. Pulmonary arteriopathy was characterized by medial hypertrophy, arterialization of muscular arteries and muscularization of non-muscularized distal arteries. Molecular genetic analyses revealed the presence of cis-mutations in the BMPR2 gene (p.Cys123Arg and p.Arg332X). Cosegregation studies were not available. Our findings suggest that mutations of the BMPR2 gene gave rise to the onset of PAH in this patient and that the severity of the onset and progression could be attributed to the presence of multiple mutations in a genedosage manner

Heuristic strategies for NFV-enabled renewable and non-renewable energy management in the future IoT world

© 2021 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.The ever-growing energy demand and the CO2 emissions caused by energy production and consumption have become critical concerns worldwide and drive new energy management and consumption schemes. In this regard, energy systems that promote green energy, customer-side participation enabled by the Internet of Things (IoT) technologies, and adaptive consumption mechanisms implemented on advanced communications technologies such as the Network Function Virtualization (NFV) emerge as sustainable and de-carbonized alternatives. On these modern schemes, diverse management algorithmic solutions can be deployed to promote the interaction between generation and consumption sides and optimize the use of available energy either from renewable or non-renewable sources. However, existing literature shows that management solutions considering features such as the dynamic nature of renewable energy generation, prioritization in energy provisioning if needed, and time-shifting capabilities to adapt the workloads to energy availability present a complexity NP-Hard. This condition imposes limits on applicability to a small number of energy demands or time-shifting values. Therefore, faster and less complex adaptive energy management approaches are needed. To meet these requirements, this paper proposes three heuristic strategies: a greedy strategy (GreedyTs), a genetic-algorithm-based solution (GATs), and a dynamic programming approach (DPTs) that, when deployed at the NFV domain, seeks the best possible scheduling of demands that lead to efficient energy utilization. The performance of the algorithmic strategies is validated through extensive simulations in several scenarios, demonstrating improvements in energy consumption and processing of demands. Additionally, simulation results reveal that the heuristic approaches produce high-quality solutions close to the optimal while executing among two and seven orders of magnitude faster and with applicability to scenarios with thousands and hundreds of thousands of energy demands.This work was supported by the Ministerio de Ciencia e Innovación of the Spanish Government under Project PID2019-108713RB-C51. The work of Christian Tipantuña was supported in part by the Escuela Politécnica Nacional and in part by Secretaría de Educación Superior, Ciencia, Tecnología e Innovación (SENESCYT).Peer ReviewedPostprint (published version

Control óptimo en tiempo discreto para un péndulo con rueda de reacción: un enfoque de control basado en pasividad

Este documento presenta el diseño de un controlador para el péndulo con rueda de reacción usando una representación discreta a través de la técnica de control óptimo inverso desde el punto de vista de análisis basado en pasividad. La principal ventaja del controlador propuesto es que este permite garantizar estabilidad asintótica en el sentido de Lyapunov a través de una función cuadrática. Los resultados numéricos demuestran que el diseño de control óptimo inverso tiene in desempeño superior en comparación con enfoques continuos basados en Lyapunov y control basado en pasividad por inyección de interconexión y amortiguamiento. Una ventaja adicional del método de control óptimo inverso es su fácil implementación, ya que no requiere de la inclusión de estados adicionales (acciones integrales) y sólo requiere una discretización básica empleado un único paso hacia atrás. Todas las simulaciones presentadas en este trabajo han sido implementadas en el software MATLAB/OCTAVE empleando código en la ventana de desarrollo.In this paper it is presented the design of a controller for a reaction wheel pendulum using a discrete-time representation via optimal control from the point of view of passivity-based control analysis. The main advantage of the proposed approach is that it allows to guarantee asymptotic stability convergence using a quadratic candidate Lyapunov function. Numerical simulations show that the proposed inverse optimal control design permits to reach superior numerical performance reported by continuous approaches such as Lyapunov control functions and interconnection, and damping assignment passivity-based controllers. An additional advantage of the proposed inverse optimal control method is its easy implementation since it does not employ additional states. It is only required a basic discretization of the time-domain dynamical model based on the backward representation. All the simulations are carried out in MATLAB/OCTAVE software using a codification on the script environment.Fil: Montoya Giraldo, Oscar Danilo. Universidad Distrital Francisco José de Caldas; ColombiaFil: Gil González, Walter. Universidad Tecnologica de Bolivar; ColombiaFil: Serra, Federico Martin. Universidad Nacional de San Luis. Facultad de Ingeniería y Ciencias Agropecuarias. Laboratorio de Control Automático; Argentin

Interaction-Aware Sampling-Based MPC with Learned Local Goal Predictions

Motion planning for autonomous robots in tight, interaction-rich, and mixed human-robot environments is challenging. State-of-the-art methods typically separate prediction and planning, predicting other agents' trajectories first and then planning the ego agent's motion in the remaining free space. However, agents' lack of awareness of their influence on others can lead to the freezing robot problem. We build upon Interaction-Aware Model Predictive Path Integral (IA-MPPI) control and combine it with learning-based trajectory predictions, thereby relaxing its reliance on communicated short-term goals for other agents. We apply this framework to Autonomous Surface Vessels (ASVs) navigating urban canals. By generating an artificial dataset in real sections of Amsterdam's canals, adapting and training a prediction model for our domain, and proposing heuristics to extract local goals, we enable effective cooperation in planning. Our approach improves autonomous robot navigation in complex, crowded environments, with potential implications for multi-agent systems and human-robot interaction.Comment: Accepted for presentation at the 2023 IEEE International Symposium on Multi-Robot & Multi-Agent System

Influencia de los diferentes tipos de astigmatismo en la agudeza visual

[EN] Purpose To investigate the change in visual acuity (VA) produced by different types of astigmatism (on the basis of the refractive power and position of the principal meridians) on normal accommodating eyes. Methods The lens induced method was employed to simulate a set of 28 astigmatic blur conditions on different healthy emmetropic eyes. Additionally, 24 values of spherical defocus were also simulated on the same eyes for comparison. VA was measured in each case and the results, expressed in logMAR units, were represented against of the modulus of the dioptric power vector (blur strength). Results LogMAR VA varies in a linear fashion with increasing astigmatic blur, being the slope of the line dependent on the accommodative demand in each type of astigmatism. However, in each case, we found no statistically significant differences between the three axes investigated (0°, 45°, 90°). Non-statistically significant differences were found either for the VA achieved with spherical myopic defocus (MD) and mixed astigmatism (MA). VA with simple hyperopic astigmatism (SHA) was higher than with simple myopic astigmatism (SMA), however, in this case non conclusive results were obtained in terms of statistical significance. The VA achieved with imposed compound hyperopic astigmatism (CHA) was highly influenced by the eye's accommodative response. Conclusions VA is correlated with the blur strength in a different way for each type of astigmatism, depending on the accommodative demand. VA is better when one of the focal lines lie on the retina irrespective of the axis orientation; accommodation favors this situation.[ES] Objetivo Investigar el cambio en la agudeza visual (AV) producido por los diferentes tipos de astigmatismo (sobre la base del poder refractivo y la posición de los principales meridianos) en ojos con acomodación normal. Métodos Se utilizó el método de desenfoque inducido con lentes para simular un conjunto de veintiocho situaciones de desenfoque astigmático en diferentes ojos emetrópicos sanos. Además, se simularon veinticuatro valores de defecto esférico en los mismos ojos, a fines comparativos. Se midió la AV en cada caso, representándose los resultados, expresados en unidades logMAR, frente a los módulos del vector de potencia dióptrica (desenfoque). Resultados La escala LogMAR para AV varía de manera lineal, incrementando la distorsión astigmática, dependiendo la inclinación de la línea de la demanda acomodativa en cada tipo de astigmatismo. Sin embargo, en cada caso, no hallamos diferencias significativas entre los tres ejes analizados (0°, 45°, 90°). No se hallaron diferencias estadísticamente significativas en cuanto a la AV lograda con el defecto miópico esférico (MD) y astigmatismo mixto (MA). La AV con astigmatismo hipermetrópico simple (SHA) fue más elevada que con astigmatismo miópico simple (SMA). Sin embargo, en este caso se obtuvieron resultados no concluyentes en términos de significancia estadística. La AV lograda con astigmatismo hipermetrópico compuesto (CHA) se vio altamente influenciada por la respuesta acomodativa del ojo. Conclusiones La AV guarda relación con el desenfoque de modo diferente para cada tipo de astigmatismo, dependiendo de la demanda de acomodación. La AV es mejor cuando una de las líneas focales está en la retina con independencia de la orientación del eje; la acomodación favorece esta situación.This study was supported by the Ministerio de Economía y Competitividad and FEDER (Grant DPI2015-71256-R), and by the Generalitat Valenciana (Grant PROMETEOII-2014-072), Spain.Remón Martín, L.; Monsoriu Serra, JA.; Furlan, WD. (2017). Influence of different types of astigmatism on visual acuity. Journal of Optometry. 10(3):141-148. https://doi.org/10.1016/j.optom.2016.07.003S14114810

Diseño y desarrollo de un espectrómetro óptico versátil de bajo coste

[EN] In this work, the processes of designing, developing and prototyping an instrument to measure the visible spectrum is shown in detail. The objective is to obtain a low-cost device, reproducible and technically competitive with the commercial docent models. The obtained device is portable, adaptable, compact, economic and with high connectivity. The core of the project is the software, and its key point is the compatibility with any commercial camera and it can be run in different operative systems. For this prototype a commercial camera with USB connection has been considered in order to find a balance between price and resolution for the resulting device.[ES] En este trabajo se detalla el proceso de diseño, desarrollo y prototipado de un sistema de medida del espectro visible. El objetivo que hay que cumplir es la obtención de un dispositivo reproducible, competitivo en el aspecto técnico con modelos comerciales de docencia actuales, y económico. El dispositivo resultante reúne las características de ser portátil, versátil, compacto, económico y con alta conectividad. El centro del proyecto es el software, que como característica clave permite ser utilizado prácticamente con cualquier cámara comercial y ser ejecutado desde distintos sistemas operativos. El prototipado se ha realizado con una cámara comercial con conexión USB con el fin de encontrar un equilibrio entre asequibilidad y resolución del producto final. Tiene un precio 20 veces más económico y una resolución similar al espectrofotómetro comercial utilizado como referencia.Este trabajo ha sido financiado por el Ministerio de Economía y Competitividad y FEDER (Proyecto DPI2015-71256-R) y por la Generalitat Valenciana (Proyecto PROMETEOII-2014-072).Ferrando, V.; Monreal, J.; Furlan, WD.; Monsoriu Serra, JA. (2017). Diseño y desarrollo de un espectrómetro óptico versátil de bajo coste. Tecnica Industrial. (318):48-52. https://doi.org/10.23800/9984S485231

Proposal of a new diffractive corneal inlay to improve near vision in a presbyopic eye

[EN] A new class of diffraction-based corneal inlays for treatment of presbyopia is described. The inlay is intended to achieve an improvement of the near focus quality over previous designs. Our proposal is a two-zone hybrid device with separated amplitude and phase areas having a central aperture and no refractive power. An array of micro-holes is distributed on the surface of the inlay conforming a binary photon sieve. In this way, the central hole of the disk contributes to the zero order of diffraction, and the light diffracted by the micro-holes in the peripheral photon sieve produces a real focus for near vision. We employed ray-tracing software to study the performance of the new inlay in the Liou-Brennan model eye. The modulation transfer functions (MTFs) at the distance and near foci, and the area under the MTFs for different object vergences, were the merit functions used in the evaluation. The results were compared with those obtained with previous pure amplitude designs. Additionally, image simulations were performed with the inlays in the model eye to show the good performance of our proposal in improving the quality of the near vision. (C) 2020 Optical Society of AmericaMinisterio de Economia y Competitividad, Spain (2019/048, DPI 2015-71256-R); Conselleria d'Educacio, Investigacio, Cultura i Esport, Comunitat Valenciana, Spain (PROMETEO/2019/048). Portions of this work were presented at the Optics Meeting (RIAO), the Latinoamerican Meeting in Optics, Lasers and Applications (OPTILAS), and the Mexican Optics and Photonics Meeting (MOPM) in September 2019, Diffractive corneal inlays: ray tracing analysis in a model eye . D. Montagud Martinez and V. Ferrando acknowledge the financial support from the Universitat Politècnica de València, Spain (fellowships FPI 2016 and PAID 10 18, respectively).Montagud-Martínez, D.; Ferrando, V.; Monsoriu Serra, JA.; Furlan, WD. (2020). Proposal of a new diffractive corneal inlay to improve near vision in a presbyopic eye. Applied Optics. 59(13):D54-D58. https://doi.org/10.1364/AO.383581SD54D585913Lindstrom, R. L., MacRae, S. M., Pepose, J. S., & Hoopes, P. C. (2013). Corneal inlays for presbyopia correction. Current Opinion in Ophthalmology, 24(4), 281-287. doi:10.1097/icu.0b013e328362293eCharman, W. N. (2014). Developments in the correction of presbyopia II: surgical approaches. Ophthalmic and Physiological Optics, 34(4), 397-426. doi:10.1111/opo.12129Furlan, W. D., García-Delpech, S., Udaondo, P., Remón, L., Ferrando, V., & Monsoriu, J. A. (2017). Diffractive corneal inlay for presbyopia. Journal of Biophotonics, 10(9), 1110-1114. doi:10.1002/jbio.201600320Kipp, L., Skibowski, M., Johnson, R. L., Berndt, R., Adelung, R., Harm, S., & Seemann, R. (2001). Sharper images by focusing soft X-rays with photon sieves. Nature, 414(6860), 184-188. doi:10.1038/35102526Giménez, F., Monsoriu, J. A., Furlan, W. D., & Pons, A. (2006). Fractal photon sieve. Optics Express, 14(25), 11958. doi:10.1364/oe.14.011958Montagud-Martinez, D., Ferrando, V., Machado, F., Monsoriu, J. A., & Furlan, W. D. (2019). Imaging Performance of a Diffractive Corneal Inlay for Presbyopia in a Model Eye. IEEE Access, 7, 163933-163938. doi:10.1109/access.2019.2949223Montagud-Martínez, D., Ferrando, V., Monsoriu, J. A., & Furlan, W. D. (2019). Optical Evaluation of New Designs of Multifocal Diffractive Corneal Inlays. Journal of Ophthalmology, 2019, 1-6. doi:10.1155/2019/9382467Liou, H.-L., & Brennan, N. A. (1997). Anatomically accurate, finite model eye for optical modeling. Journal of the Optical Society of America A, 14(8), 1684. doi:10.1364/josaa.14.001684Alarcon, A., Canovas, C., Rosen, R., Weeber, H., Tsai, L., Hileman, K., & Piers, P. (2016). Preclinical metrics to predict through-focus visual acuity for pseudophakic patients. Biomedical Optics Express, 7(5), 1877. doi:10.1364/boe.7.00187

Optical Evaluation of New Designs of Multifocal Diffractive Corneal Inlays

[EN] Purpose. To assess the imaging properties of two different designs of a new concept of corneal inlays whose working principle is based on diffraction. Methods. The quality of the retinal images provided by Diffractive Corneal Inlays (DCIs) was evaluated theoretically in comparison with Small Aperture Corneal Inlay (SACI). ZEMAX OpticStudio software was employed for the simulations in an eye model with different pupil diameters (3.0 mm and 4.5 mm). The employed merit functions in the analysis were the Modulation Transfer Function (MTF), the area under the MTF (MTFa), and the Point Spread Function (PSF). Comparison was made with the SACI at different defocus conditions. Results. The bifocal nature of the DCIs was demonstrated in a model eye for the first time. It was shown that the intensity of the near focus depends on the radius of the central zone. Retinal image quality of the DCI was equal to or exceeded the SACI in the majority of visual conditions as was demonstrated with simulated images. Conclusions. A new customizable type of corneal inlays has been evaluated using objective numerical simulations. Improvements in imaging of near objects and in light throughput compared with the popular small aperture inlays were demonstrated. These findings open a new technical branch of minimally invasive surgical solutions for the treatment of presbyopia.D. Montagud-Martinez and V. Ferrando acknowledge the financial support from the Universitat Politècnica de València, Spain (fellowships FPI-2016 and PAID-10-18, respectively). This work was supported in part by the Ministerio de Economia y Competitividad, Spain, (grant DPI2015-71256-R) and by the Generalitat Valenciana (Grant PROMETEO/2019/048), Spain.Montagud-Martínez, D.; Ferrando, V.; Monsoriu Serra, JA.; Furlan, WD. (2019). Optical Evaluation of New Designs of Multifocal Diffractive Corneal Inlays. Journal of Ophthalmology. 2019:1-6. https://doi.org/10.1155/2019/9382467S162019Fricke, T. R., Tahhan, N., Resnikoff, S., Papas, E., Burnett, A., Ho, S. M., … Naidoo, K. S. (2018). Global Prevalence of Presbyopia and Vision Impairment from Uncorrected Presbyopia. Ophthalmology, 125(10), 1492-1499. doi:10.1016/j.ophtha.2018.04.013Furlan, W. D., García-Delpech, S., Udaondo, P., Remón, L., Ferrando, V., & Monsoriu, J. A. (2017). Diffractive corneal inlay for presbyopia. Journal of Biophotonics, 10(9), 1110-1114. doi:10.1002/jbio.201600320Kipp, L., Skibowski, M., Johnson, R. L., Berndt, R., Adelung, R., Harm, S., & Seemann, R. (2001). Sharper images by focusing soft X-rays with photon sieves. Nature, 414(6860), 184-188. doi:10.1038/3510252