Matrimonio y reproducción en una mujer con síndrome de Down

La vida sexual de las personas con síndrome de Down (SD) u otros trastornos asociados con la discapacidad intelectual sigue siendo un tabú, con pocos relatos en la literatura. Los avances en el conocimiento de los aspectos causales y nosológicos, incluidas sus conquistas sociales, llevaron al fortalecimiento del movimiento inclusivo destinado a estas personas. En este artículo se presenta un caso inusual de un matrimonio de una mujer con SD que tiene un hijo. Esta mujer estudió en escuelas especiales y se comunica bien verbalmente. Presentó menarquía a los 13 años de edad, y demostró autonomía en el cuidado de su cuerpo. Ocho años atrás conoció a su actual esposo en una escuela especial. Después de 2 años de matrimonio, ella quedó embarazada de un varón sin este síndrome. La mujer es capaz de atender las necesidades de su hijo, responsabilidad que comparte con su madre, que fue la principal responsable de su educación hacia la autonomía. El cariotipo de la probanda reveló trisomía 21 con mosaicismo cromosómico. Se están produciendo nuevos logros sociales, incluido el establecimiento de relaciones afectivas perdurables. Las posibilidades de reproducción y el riesgo de recurrencia del SD de ben ser considerados en el consejo genético. El cuidado de todos los niños nacidos de estos matrimonios genera responsabilidades compartidas por estos padres especiales y sus familias

Mucoid morphotype variation of Burkholderia multivorans during chronic cystic fibrosis lung infection is correlated with changes in metabolism, motility, biofilm formation and virulence

Burkholderia cepacia complex (Bcc) bacteria are opportunistic pathogens infecting hosts such as cystic fibrosis (CF) patients. Long-term Bcc infection of CF patients' airways has been associated with emergence of phenotypic variation. Here we studied two Burkholderia multivorans clonal isolates displaying different morphotypes from a chronically infected CF patient to evaluate trait development during lung infection. Expression profiling of mucoid D2095 and non-mucoid D2214 isolates revealed decreased expression of genes encoding products related to virulence-associated traits and metabolism in D2214. Furthermore, D2214 showed no exopolysaccharide production, lower motility and chemotaxis, and more biofilm formation, particularly under microaerophilic conditions, than the clonal mucoid isolate D2095. When Galleria mellonella was used as acute infection model, D2214 at a cell number of approximately 7×10(6) c.f.u. caused a higher survival rate than D2095, although 6 days post-infection most of the larvae were dead. Infection with the same number of cells by mucoid D2095 caused larval death by day 4. The decreased expression of genes involved in carbon and nitrogen metabolism may reflect lower metabolic needs of D2214 caused by lack of exopolysaccharide, but also by the attenuation of pathways not required for survival. As a result, D2214 showed higher survival than D2095 in minimal medium for 28 days under aerobic conditions. Overall, adaptation during Bcc chronic lung infections gave rise to genotypic and phenotypic variation among isolates, contributing to their fitness while maintaining their capacity for survival in this opportunistic human niche

Síndrome de Down hereditario poco común debido a la translocación robertsoniana 15/21: asesoramiento genético y reproductivo

Los portadores de un reordenamiento que afecta al cromosoma 21 tienen un riesgo potencial de concepciones genéticamente desequilibradas que pueden dar origen a niños con síndrome de Down (SD). Los riesgos reproductivos de las parejas portadoras de una translocación robertsoniana equilibrada dependen de los cromosomas reordenados y del sexo del portador. Este artículo tiene como objetivo analizar la tendencia de segregación y reproductiva de una rara translocación 15/21 en cinco generaciones de una familia. Se consideraron los avances actuales en tecnología reproductiva como una posibilidad para evitar la aneuploidía fetal. Dado el riesgo genético, el diagnóstico de preimplantación aparece también como una alternativa para evitar la posibilidad de un aborto posterior no deseado y para obtener una descendencia saludable

Towards IoT platforms’ integration:Semantic Translations between W3C SSN and ETSI SAREF

Several IoT ontologies have been developed lately to improve the semantic interoperability of IoT solutions. The most popular of these ontologies, the W3C Semantic Sensor Network (SSN), is considered an ontological foundation for diverse IoT initiatives, particularly OpenIoT. With characteristics similar to SSN, the ETSI Smart Appliances REFerence (SAREF) ontology evolved from the needs of smart home solutions to common requirements of IoT. Some IoT solutions rely on platform-specific ontologies and their integration requires mechanisms to align these ontologies. In this paper we discuss the ontology alignment between SSN and SAREF, identifying mapping alternatives and proposing basic mappings that can be re-used to define more complex ones. We introduce here an initial specification of the semantic translations from the main elements of SSN to SAREF, which includes classes, object properties and data properties. The alignment will be used in a semantic matching process leveraging the semantic mediator component of the INTER-IoT project. An initial evaluation of the translation was executed by translating the wind sensor (Vaisala WM30), an example provided by the W3C, from SSN to SAREF. This initial evaluation demonstrates the coherence and feasibility of the proposed mappings

Durability assessment of external thermal insulation composite systems in urban and maritime environments

External Thermal Insulation Composite Systems (ETICS) are multilayer solutions which provide an enhanced thermal performance to the building envelope. However, significant anomalies can be detected on ETICS facades, in some cases shortly after the application of these systems. This study intends to evaluate and compare the durability of six commercially available ETICS after two years of outdoor exposure at both urban and maritime conditions in Portugal. The systems were characterized by means of non-destructive testing (i.e., visual and microscopic assessment, water transport properties, thermal conductivity, surface roughness), thus allowing to evaluate the performance loss throughout natural aging. The bio-susceptibility and aesthetic properties (color and gloss) were also investigated. Results showed that the performance and durability of the complete system is significantly affected by the rendering system formulation. The lime-based specimens obtained the highest rate of mold development after one year of aging in a maritime environment, becoming considerably darker and with lower surface gloss. Fungal analysis of this darkish stained area indicated the presence of mold species of the genera Alternaria, Didymella, Cladosporium and Epicoccum, and yeasts of the genera Vishniacozyma and Cystobasidium. An increase of both capillary water absorption and water vapor permeability was also registered for the aged lime-based specimens. Acrylic-based systems obtained lower capillary water absorption after aging and greater dirt deposition on their surfaces, especially in urban conditions. These systems had also higher color variation and surface gloss decrease and slightly higher mold growth, when compared with those aged in a maritime environment. Finally, no mold growth was detected on the silicate-based specimens after two years of aging. However, these specimens obtained higher capillary water absorption and lower vapor permeability after aging, possibly leading to moisture accumulation within the system. Results contribute towards the development of ETICS with enhanced performance and durability.info:eu-repo/semantics/publishedVersio

Classical self-forces in a space with a dispiration

We derive the gravitational and electrostatic self-energies of a particle at rest in the background of a cosmic dispiration (topological defect), finding that the particle may experience potential steps, well potentials or potential barriers depending on the nature of the interaction and also on certain properties of the defect. The results may turn out to be useful in cosmology and condensed matter physics.Comment: 5 pages, 4 figures, revtex4 fil

Traveling length and minimal traveling time for flow through percolation networks with long-range spatial correlations

We study the distributions of traveling length l and minimal traveling time t through two-dimensional percolation porous media characterized by long-range spatial correlations. We model the dynamics of fluid displacement by the convective movement of tracer particles driven by a pressure difference between two fixed sites (''wells'') separated by Euclidean distance r. For strongly correlated pore networks at criticality, we find that the probability distribution functions P(l) and P(t) follow the same scaling Ansatz originally proposed for the uncorrelated case, but with quite different scaling exponents. We relate these changes in dynamical behavior to the main morphological difference between correlated and uncorrelated clusters, namely, the compactness of their backbones. Our simulations reveal that the dynamical scaling exponents for correlated geometries take values intermediate between the uncorrelated and homogeneous limiting cases