Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental disorder of genetic cause. So far, about 400 patients have been reported worldwide. Individuals affected by this syndrome have large phenotypic heterogeneity. However, a specific phenotype has emerged including global developmental delay, microcephaly, delayed speech, some dysmorphic features, and a characteristic and monochromatic high-pitch voice, resembling a cat’s cry. We here describe a cohort of 70 patients with clinical features of 5p- Sd characterized by means of deep phenotyping, SNP arrays, and other genetic approaches. Individuals have a great clinical and molecular heterogeneity, which can be partially explained by the existence of additional significant genomic rearrangements in around 39% of cases. Thus, our data showed significant statistical differences between subpopulations (simple 5p deletions versus 5p deletions plus additional rearrangements) of the cohort. We also determined significant “functional” differences between male and female individuals.

La disrupción generada por la economía inteligente y por la economía colaborativa en el entorno exige la capacidad de reinventarse a los destinos turísticos y partes interesadas. Se detecta la necesidad de un nuevo modelo de destino turístico inteligente que integre las 3’s (Smart, Share y Sustainability). Mediante el estudio de caso de Madrid, se ilustra el impacto de los alojamientos turísticos de Airbnb en el territorio mediante determinados indicadores cuantitativos. Por medio de un análisis clúster se realizan diversas agrupaciones de los distritos, en función de distintos indicadores (nº de alojamientos, nº de alojamientos/ y precio medio de los alojamientos) que permiten medir el grado de impacto de los alojamientos turísticos de alquiler (Airbnb) en el territorio. Se complementa el análisis de los alquileres turísticos, agrupando los distritos en función del precio de los alquileres destinados a uso permanente (Fotocasa), a fin de tener una imagen más fidedigna de la vivienda en alquiler en la capital española. Por último, se sugieren distintas soluciones para la descongestión de determinados distritos, resaltando la posibilidad del uso de inteligencia artificial mediante algoritmos para una gestión eficaz de los destinos; así como se acentúa la importancia de guiar las actuaciones gubernamentales hacia la sostenibilidad del destino.

This paper seeks to contribute to the investigation of urban management models considering the sharing economy. Adding an integrative perspective that evaluates the real impact on the territory of regulated and unregulated accommodation in cities in order to guarantee the sustainability of the long-term destinations, the tourist experience and the quality of life of the residents. The data of the hotels and tourist apartments are analyzed together with those of Airbnb. The data of the distribution of holiday dwellings offered by Airbnb were mapped out as new indicators capable of reflecting the real situation that demand and housing supply are experiencing in Madrid and Barcelona. It is understood that thanks to these indicators, tourist destinations are able to direct exchanges between collaborative economy and smart economy toward achieving the purpose of the model: making destinations sustainable.

The Coronavirus 2019 (COVID-19) outbreak represents the first time that an international health crisis of this level has been experienced in the digital age. This research aims to determine the causal configurations of different types of content that led to a high rate of dissemination. Firstly, we identify possible explanatory variables of information and knowledge dissemination through Twitter. The variables were organised into two blocks (content richness and psychological content). An analysis was then performed of two Twitter accounts (official vs. unofficial) using Qualitative Comparative Analysis. For the unofficial source, the results reveal the importance of a combination of emotional, identifying, and video content factors. For the official account, in contrast, the dissemination is determined by the absence of emotional, identifying, and untrustworthy content and the presence of image content. These configurations are useful for public and private management of a health crisis.