Síntomas neurológicos en la mucopolisacaridosis tipo I

Mucopolysaccharidoses type I is a metabolic disease whose cause is the absence or deficiency of the enzyme α-irudinase which leads to an accumulation of GAGs in the Neurological manifestations in Muopolysaccharidosis type I are frequent and often severe, mainly in the Hurler phenotype. Their severity correlates with the genotype and treatment received; And can be as important as Hydrocephalus and Intellectual Disability, which can even become severe. Neurological manifestations in Mucopolysaccharidoses type I should be known and detected in time in order to make correctly interventions to minimize their impact.La mucopolisacaridosis tipo I es una enfermedad metabólica cuya causa es la ausencia o deficiencia de la enzima α-iduronidasa que lleva a una acumulación de GAGs en los lisosomas. Esta deficiencia causa una importante sintomatología neurológica. Las manifestaciones neurológicas en la Muopolisacaridosis tipo I son frecuentes y muchas veces graves, principalmente en el fenotipo Hurler. Las severidades de las mismas tienen correlación con el genotipo y el tratamiento recibido; y pueden ser tan importantes y severas como la Hidrocefalia y la Discapacidad Intelectual. Las manifestaciones neurológicas en la Mucopoliacaridosis tipo I deben conocerse y detectarse a tiempo con el fin de realizar intervenciones oportunas para minimizar su impacto

Power Block Off-design Control Strategies for Indirect Solar ORC Cycles

AbstractThe performance of a 5MWel indirect ORC cycle coupled to linear solar collectors with different technologies is assessed, aiming at evaluating the effect of different control strategies on annual electricity output. Two different solutions are considered for solar collectors: a state-of-the-art parabolic trough collector with Therminol VP1 as heat transfer fluid (HTF), reaching 390°C as maximum temperature within the solar field, and a cheaper Linear Fresnel Reflector (LFR) with Therminol 55, limited to an operating temperature of 310°C. A simplified procedure is firstly proposed in order to identify the organic fluid that guarantees the highest performance under design conditions. Toluene is the selected working fluid in a saturated regenerative Rankine cycle configuration. After fluid selection, a more detailed analysis involving turbine sizing and piping estimate is carried on in order to set optimal on-design parameters such as the evaporating pressure of the working fluid. Finally, yearly electricity production is calculated taking into account off-design performance of all plant components as a function of the effective solar radiation. Two different off-design control strategies are considered for the turbine, namely sliding pressure and constant pressure at the turbine inlet. The levelized cost of electricity (LCOE) is computed for both cases. For high temperature collectors the LCOE results respectively about 180 €/MWh with partial admission and 175 €/MWh with sliding pressure off-design control strategy. LFR technology leads to similar LCOE when its specific cost is about half than the parabolic trough collector

Caracterización clínica, epidemiológica y genética de pacientes con Atrofia Muscular Espinal: serie de 26 pacientes pediátricos.

Introducción: La Atrofia Muscular Espinal 5q (AME 5q) es la forma más frecuente de atrofia muscular espinal y está relacionada con la mutación del gen SMN1. Se clasifica en 4 tipos según la edad de presentación y el máximo logro motor alcanzado. Objetivo: Describir las características clínicas, epidemiológicas y genéticas de pacientes pediátricos con AME 5q evaluados en el servicio de Neurología del Hospital General Pediátrico Niños de Acosta Ñu. Materiales y Métodos: Estudio observacional, descriptivo, retrospectivo, transversal. Fueron incluidos pacientes con diagnóstico de AME del Servicio de Neurología del Hospital General Pediátrico Niños de Acosta Ñu, desde julio 2013 a julio 2017. Variables: datos demográficos, síntomas, clasificación, estudio genético, complicaciones y evolución. Se utilizó estadística descriptiva. El comité de ética de investigación liberó el consentimiento informado. Resultados: Se incluyeron 26 pacientes con diagnóstico de AME 5q. El 57,5%(15/26) fueron del sexo masculino. Consultaron por: no camina (19,2%), dificultad respiratoria y escaso movimiento (19,2%). Tipos de AME 5q: I 15/26 (57,7%), II 8/26 (30,7%) y III 3/26 (11,5%). Mediana de edad de diagnóstico clínico y genético: 6 meses y 7,5 meses respectivamente. La alteración genética fue delección homocigota en exones 7 y 8 del gen SMN1. Complicaciones más frecuentes: respiratorias, nutricionales y osteoarticulares. Casi todos recibieron fisioterapia motora y respiratoria más soporte nutricional. Ninguno recibió tratamiento específico modificador. Fallecieron 12/15 de AME tipo I. La mediana de edad de fallecimiento fue 8 meses. Conclusión: se encontró un patrón clínico, epidemiológico y genético clásico, con diagnóstico clínico y genético tardíos. Recibido: 19/01/2020 Aceptado:16/02/2021 Conflicto de interés: Los autores declaran no poseer conflicto de interé

Integrating a UAV-derived DEM in object-based image analysis increases habitat classification accuracy on coral reefs

Very shallow coral reefs (<5 m deep) are naturally exposed to strong sea surface temperature variations, UV radiation and other stressors exacerbated by climate change, raising great concern over their future. As such, accurate and ecologically informative coral reef maps are fundamental for their management and conservation. Since traditional mapping and monitoring methods fall short in very shallow habitats, shallow reefs are increasingly mapped with Unmanned Aerial Vehicles (UAVs). UAV imagery is commonly processed with Structure-from-Motion (SfM) to create orthomosaics and Digital Elevation Models (DEMs) spanning several hundred metres. Techniques to convert these SfM products into ecologically relevant habitat maps are still relatively underdeveloped. Here, we demonstrate that incorporating geomorphometric variables (derived from the DEM) in addition to spectral information (derived from the orthomosaic) can greatly enhance the accuracy of automatic habitat classification. Therefore, we mapped three very shallow reef areas off KAUST on the Saudi Arabian Red Sea coast with an RTK-ready UAV. Imagery was processed with SfM and classified through object-based image analysis (OBIA). Within our OBIA workflow, we observed overall accuracy increases of up to 11% when training a Random Forest classifier on both spectral and geomorphometric variables as opposed to traditional methods that only use spectral information. Our work highlights the potential of incorporating a UAV’s DEM in OBIA for benthic habitat mapping, a promising but still scarcely exploited asset

A soil fungus confers plant resistance against a phytophagous insect by disrupting the symbiotic role of its gut microbiota

Plants generate energy flows through natural food webs, driven by competition for resources among organisms, which are part of a complex network of multitrophic interactions. Here, we demonstrate that the interaction between tomato plants and a phytophagous insect is driven by a hidden interplay between their respective microbiotas. Tomato plants colonized by the soil fungus Trichoderma afroharzianum, a beneficial microorganism widely used in agriculture as a biocontrol agent, negatively affects the development and survival of the lepidopteran pest Spodoptera littoralis by altering the larval gut microbiota and its nutritional support to the host. Indeed, experiments aimed to restore the functional microbial community in the gut allow a complete rescue. Our results shed light on a novel&nbsp;role played by a soil microorganism in the modulation of plant-insect interaction, setting the stage for a more comprehensive analysis of the impact that biocontrol agents may have on ecological sustainability of agricultural systems

Mucopolysaccharidosis type I (MPS I). Multidiciplinary aspects and clinical guidelines

The existence of a specific enzyme replacement therapy for the treatment of Mucopolysaccharidosis type I has modified the natural course of the disease. Given the progressive nature and multisystem commitment, it is very important to coordinate interdisciplinary work, so as to provide comprehensive coverage and optimize results of all interventions made in patients. The content of this guide deals with current knowledge of Mucopolysaccharidosis (MPS) in general, and then more specifically in the subject matter of MPS I, with the contribution of specialists from each area, and from different institutions in the country. We will also find recommendations based on scientific evidence published in literatura.La existencia de una terapia de reemplazo enzimático específica para el tratamiento de la Mucopolisacaridosis tipo I ha modificado el curso natural de la enfermedad. Dada la naturaleza progresiva y el compromiso multisistémico, es muy importante el trabajo coordinado interdisciplinario, de manera a dar cobertura integral y optimizar resultados de todas las intervenciones hechas en los pacientes. El contenido de esta guía trata sobre conocimientos actuales de las Mucopolisacaridosis (MPS) en general, para luego adentrarse más específicamente en la temática propia de la MPS I, con la contribución de los estudiosos de cada área, y procedentes de diferentes Instituciones del país.Se encontrarán además recomendaciones basadas en evidencias científicas publicadas en la literatura

Hiperbilirrubinemia neonatal, encefalopatía bilirrubínica aguda y Kernicterus: La secuencia sigue vigente en el siglo XXI

Aunque la ictericia afecta a más de la mitad de los neonatos en la primera semana de vida, sólo un grupo de ellos pueden desarrollar hiperbilirrubinemia severa y estar en riesgo de desarrollar encefalopatía bilirrubínica. La afectación neurológica puede presentarse con un cuadro agudo (la encefalopatía bilirrubínica aguda), la cual puede o no progresar a una forma crónica (Kernicterus), o con una constelación de síntomas sensoriales, motores y cognitivos, subagudos o crónicos, dependiendo de la presencia de factores de riesgo que aumentan la susceptibilidad al daño neurológico. La bilirrubina libre interactúa con citoquinas inflamatorias y es la responsable del daño neuronal y de las células de la glía en el sistema nervioso central. A pesar de las diferentes medidas de prevención de hiperbilirrubinemia severa, se siguen reportando casos de Kernicterus sobre todo en países en vías de desarrollo, en algunos de los cuales constituyen un problema de salud pública

Manual sampling and video observations : an integrated approach to studying flower-visiting arthropods in high-mountain environments

CITATION: Bonelli, M. et al. 2020. Manual sampling and video observations : an integrated approach to studying flower-visiting arthropods in high-mountain environments. Insects, 11(12): 881, doi:10.3390/insects11120881.The original publication is available at https://www.mdpi.comDespite the rising interest in biotic interactions in mountain ecosystems, little is known about high-altitude flower-visiting arthropods. In particular, since the research in these environment can be limited or undermined by harsh conditions and logistical difficulties, it is mandatory to develop effective approaches that maximize possibilities to gather high-quality data. Here we compared two different methods, manual sampling and video observations, to investigate the interactions between the high-mountain arthropod community and flowers of Androsace brevis (Primulaceae), a vulnerable endemic alpine species with a short flowering period occurring in early season. We manually sampled flower-visiting arthropods according to the timed-observations method and recorded their activity on video. We assessed differences and effectiveness of the two approaches to estimate flower-visiting arthropod diversity and to identify potential taxa involved in A. brevis pollination. Both methods proved to be effective and comparable in describing the diversity of flower visitors at a high taxonomic level. However, with manual sampling we were able to obtain a fine taxonomic resolution for sampled arthropods and to evaluate which taxa actually carry A. brevis pollen, while video observations were less invasive and allowed us to assess arthropod behavior and to spot rare taxa. By combining the data obtained with these two approaches we could accurately identify flower-visiting arthropods, characterize their behavior, and hypothesize a role of Hymenoptera Apoidea and Diptera Brachycera in A. brevis pollination. Therefore, we propose integrating the two approaches as a powerful instrument to unravel interactions between flowering plants and associated fauna that can provide crucial information for the conservation of vulnerable environments such as high-mountain ecosystems.Parco delle Orobie Bergamaschehttps://www.mdpi.com/2075-4450/11/12/881Publisher's versio

The Early Season Community of Flower-Visiting Arthropods in a High-Altitude Alpine Environment

In mountain ecosystems, climate change can cause spatiotemporal shifts, impacting the composition of communities and altering fundamental biotic interactions, such as those involving flower-visiting arthropods. On of the main problems in assessing the effects of climate change on arthropods in these environments is the lack of baseline data. In particular, the arthropod communities on early flowering high-altitude plants are poorly investigated, although the early season is a critical moment for possible mismatches. In this study, we characterised the flower-visiting arthropod community on the early flowering high-altitude Alpine plant, Androsace brevis (Primulaceae). In addition, we tested the effect of abiotic factors (temperature and wind speed) and other variables (time, i.e., hour of the day, and number of flowers per plant) on the occurrence, abundance, and diversity of this community. A. brevis is a vulnerable endemic species growing in the Central Alps above 2000 m asl and flowering for a very short period immediately after snowmelt, thus representing a possible focal plant for arthropods in this particular moment of the season. Diptera and Hymenoptera were the main flower visitors, and three major features of the community emerged: an evident predominance of anthomyiid flies among Diptera, a rare presence of bees, and a relevant share of parasitoid wasps. Temperature and time (hour of the day), but not wind speed and number of flowers per plant, affected the flower visitors&rsquo; activity. Our study contributes to (1) defining the composition of high-altitude Alpine flower-visiting arthropod communities in the early season, (2) establishing how these communities are affected by environmental variables, and (3) setting the stage for future evaluation of climate change effects on flower-visiting arthropods in high-altitude environments in the early season