Seasonal Occurrence of Reef-Related Medusae (Cnidaria) in the Western Caribbean Sea

Seasonal fluctuations in composition and abundance of medusae collected in a reef lagoon of the Mexican Caribbean were analyzed. Plankton samples and hydrological data were taken monthly from January to September 1994 at 2 stations: coastal and near-reef. The highest densities of medusae were recorded in March (17,687 ind/100 m3) and August (2,433 ind/100 m3) at the coastal station. Medusae were less abundant at the nearreef station, but diversity indices were higher in comparison to the coastal station. Twenty-five species (24 hydroidomedusae and 1 scyphomedusa) were identified, with Linuche unguiculata (Swartz, 1788) and Eirene lactea (Mayer, 1900) being the most abundant. Linuche unguiculata was the dominant species, accounting for more than 84% of the total numbers of medusae in the coastal station and over 97% in the near-reef station. The co-occurrence of neritic and oceanic species in the reef-associated community of medusae is probably related to circulation patterns and wind regimes. Dipurena ophiogaster (Haeckel, 1879) and Sarsia eximia (Allman, 1859) were recorded for the first time in the Mexican Caribbean Sea

Colgando mi vida en la red. Formas de construcción de subjetividades juveniles en relación con las nuevas tecnologías: en el caso de los blogs

Este trabajo ha tenido como objetivo establecer las relaciones entre la triada jóvenes, tecnologías y subjetividad, esta triada posee varias conexiones y posibilidades, que en muchas ocasiones se entrelazan o mejor aún crean simbiosis que generan nuevos escenarios de investigación como lo ejemplifica este trabajo de grado. Cuando hablamos de los jóvenes de hoy tenemos que decir que poseen un distintivo comparado con los otros de generaciones anteriores, y es que son jóvenes que han nacido en el tiempo de la que se ha denominado ―sociedad de la información‖, donde en ella no sólo entendemos que el conocimiento es el recurso más importante, sino que los desarrollos económicos, sociales y políticos, se hallan íntimamente relacionados a procesos creativos, y por ello los jóvenes están en condiciones de competencias mucho más propicias en dicho escenario. Si tenemos en cuenta con la velocidad que se están presentando los procesos de movilidad humana, así como la comunicación y la circulación de la información, todo esto ha ido aumentando aún más en los últimos tiempos con el desarrollo de las nuevas tecnologías

Aplicación del lenguaje "R": El modelo de conducta del consumidor

Resumen Este trabajo consiste en una defensa de la eficacia del lenguaje de programación “R” para funciones didácticas en el contexto de la optimización aplicado a la teoría del consumidor. El procedimiento seguirá la estructura de exposición general de la teoría del consumidor, se ejemplificará dicha teoría con funciones de utilidad generales tipo Cobb-Douglas y, en cada fase del desarrollo, se demostrará que se cumplen las condiciones y resultados teóricos que se irán explicando. Para visualizar gráficamente los resultados se darán valores paramétricos concretos a las funciones que intervienen, representándolas a través de “R”. Esta particularización concluirá en la aportación gráfica y matemática de funciones y soluciones finales para el problema planteado. De esta forma, el lector podrá comprobar que “R” es una buena herramienta para explicar y comprender la teoría del consumidor y en general cualquier modelo económico

More than one HMG-CoA Lyase: The classical mitochondrial enzyme plus the peroxisomal and the cytosolic ones

There are three human enzymes with HMG-CoA lyase activity that are able to synthesize ketone bodies in different subcellular compartments. The mitochondrial HMG-CoA lyase was the first to be described, and catalyzes the cleavage of 3-hydroxy-3-methylglutaryl CoA to acetoacetate and acetyl-CoA, the common final step in ketogenesis and leucine catabolism. This protein is mainly expressed in the liver and its function is metabolic, since it produces ketone bodies as energetic fuels when glucose levels are low. Another isoform is encoded by the same gene for the mitochondrial HMG-CoA lyase (HMGCL), but it is located in peroxisomes. The last HMG-CoA lyase to be described is encoded by a different gene, HMGCLL1, and is located in the cytosolic side of the endoplasmic reticulum membrane. Some activity assays and tissue distribution of this enzyme have shown the brain and lung as key tissues for studying its function. Although the roles of the peroxisomal and cytosolic HMG-CoA lyases remain unknown, recent studies highlight the role of ketone bodies in metabolic remodeling, homeostasis, and signaling, providing new insights into the molecular and cellular function of these enzymes

Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches

The Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopment Disorder (PACS1-NDD) is a rare autosomal dominant disease caused by mutations in the PACS1 gene. To date, only 87 patients have been reported and, surprisingly, most of them carry the same variant (c.607C>T; p.R203W). The most relevant clinical features of the syndrome include neurodevelopment delay, seizures or a recognizable facial phenotype. Moreover, some of these characteristics overlap with other syndromes, such as the PACS2 or Wdr37 syndromes. The encoded protein phosphofurin acid cluster sorting 1 (PACS-1) is able to bind to different client proteins and direct them to their subcellular final locations. Therefore, although its main function is protein trafficking, it could perform other roles related to its client proteins. In patients with PACS1-NDD, a gain-of-function or a dominant negative mechanism for the mutated protein has been suggested. This, together with the fact that most of the patients carry the same genetic variant, makes it a good candidate for novel therapeutic approaches directed to decreasing the toxic effect of the mutated protein. Some of these strategies include the use of antisense oligonucleotides (ASOs) or targeting of its client proteins

Evaluating face2gene as a tool to identify cornelia de lange syndrome by facial phenotypes

Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal genes and the presence of overlapping syndromes have made it increasingly difficult to diagnose only by clinical features. DeepGestalt technology, and its app Face2Gene, is having a growing impact on the diagnosis and management of genetic diseases by analysing the features of affected individuals. Here, we performed a phenotypic study on a cohort of 49 individuals harbouring causative variants in known CdLS genes in order to evaluate Face2Gene utility and sensitivity in the clinical diagnosis of CdLS. Based on the profile images of patients, a diagnosis of CdLS was within the top five predicted syndromes for 97.9% of our cases and even listed as first prediction for 83.7%. The age of patients did not seem to affect the prediction accuracy, whereas our results indicate a correlation between the clinical score and affected genes. Furthermore, each gene presents a different pattern recognition that may be used to develop new neural networks with the goal of separating different genetic subtypes in CdLS. Overall, we conclude that computer-assisted image analysis based on deep learning could support the clinical diagnosis of CdLS.Spanish Ministry of Science, Innovation and Universities/State Research Agency RTC-2017-6494-1; RTI2018-094434-B-I00 (MCIU/AEI/FEDER, UE) to P.G.-P.; Diputación General de Aragón - FEDER: European Social Fund [Grupo de Referencia B32_17R, to J.P.] as well as funds from the European JPIAMR-VRI network “CONNECT” to P.G.-P.; Medical Faculty of the University of Lübeck J09-2017 to I. P.; German Federal Ministry of Education and Research (BMBF

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal genes and the presence of overlapping syndromes have made it increasingly difficult to diagnose only by clinical features. DeepGestalt technology, and its app Face2Gene, is having a growing impact on the diagnosis and management of genetic diseases by analysing the features of affected individuals. Here, we performed a phenotypic study on a cohort of 49 individuals harbouring causative variants in known CdLS genes in order to evaluate Face2Gene utility and sensitivity in the clinical diagnosis of CdLS. Based on the profile images of patients, a diagnosis of CdLS was within the top five predicted syndromes for 97.9% of our cases and even listed as first prediction for 83.7%. The age of patients did not seem to affect the prediction accuracy, whereas our results indicate a correlation between the clinical score and affected genes. Furthermore, each gene presents a different pattern recognition that may be used to develop new neural networks with the goal of separating different genetic subtypes in CdLS. Overall, we conclude that computer-assisted image analysis based on deep learning could support the clinical diagnosis of CdL