A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting, helped to characterize the sSMC which resulted to be derived from chromosome 16. In fact, the presence of euchromatin material from the long arm (16q) in the sSMC was demonstrated, and the karyotype can be written as mos 47, XY,+min(16)(:p11.1->q12.1:)[20]/46, XY [10]

Coastal Dune Restoration: Trends and Perspectives

Sandy coasts are distributed worldwide and they are all heterogeneous ecosystems in terms of morphology, vegetation, and dynamics. Psammophytes are common in these environments. Besides these widespread attributes, sandy beaches and coastal dunes also share the intense impact of humans. Because of their privileged location at the coast, they are preferred sites for urban and maritime development, destinations for tourists, and locations for many other human activities. Thus, over the years (but especially during the last few decades) many of the previously natural dunescapes have been lost to urban, tourist, and industrial developments. Furthermore, a recurring problem of many coastal dune systems is over-stabilization, which is mostly the result of human actions. The urgent need to preserve the natural and valuable coastal dune remnants and, as much as possible, restore those that have been degraded, is evident. There are many different and contrasting actions that have been followed during restoration activities. Restoration actions have involved “soft” methods, such as sand fences, and “hard” methods, such as geotubes and herbicides. Also, restoration may lead not only to the stabilization of dunes, but also to the re-mobilization of sand. On n overcrowded planet where the coasts are ecosystems to which humans gravitate, conservation and restoration actions become exponentially important

A Follow-Up Study of Cognitive Development in Low Risk Preterm Children

The results of a longitudinal study on the cognitive development of one group of full-term and three groups of low risk preterm children with different gestational ages (GA) are presented. The 181 participants were divided into four GA groups of similar size. The aims were: 1) To check if there are differences in cognitive development (measured through the Batelle scale) among the GA groups. 2) To establish the predictive factors of cognitive development at 22 and 60 months of age, taking into account biomedical, environmental and individual factors. The results of the repeated measures ANOVA performed at 22 and 60 months of age indicated that the cognitive trajectories of the four GA groups were similar. Linear regression analyses showed that the effect of the different predictors changed in relation to the time of measurement of cognitive development. Biological factors and the quality of home environment had a moderate effect on the cognitive development at 22 months of age. Cognitive results obtained at 22 months of age, and, to a lesser extent, working memory had the greatest effect on cognitive development at 60 months. GA does not predict cognitive development. Preterm children do not show cognitive delay if they are healthyThis research was funded by the Ministerio de Ciencia e Innovación of the Spanish Government, grants number PSI2008-03905, PSI2011-23210 and PSI2015-66697-R to the first authorS

Cementación en braquiópodos articulados

Estudio sobre el tipo de fijación al sustrato de los braquiópodos articulados que sirve para reordenar su taxonomía. Se señala, por primera vez, el desarrollo del hábito cementante en un miembro de la familia Leptaenidae

Complex Chromosome Rearrangements (CCRs): Description of a new case with 5 breakpoints between chromosome 4 and 8

Citogenética y Genética molecularComplex chromosomal rearrangements (CCRs) were first defined by Pai et al. (1980) as "structural chromosomal rearrangements with at least three breakpoints and the exchange of genetic material between two or more chromosomes”. More recently, in 2003, Houge et al. redefined CCRs as "constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints”, which has become the definition more commonly used nowadays when referring to CCRs. In general, due to the intrinsic complexity involved in their formation, CCRs are rare. However, over the years, CCRs have been classified by various authors taking into account different criteria. Therefore, they may be classified according to their transmission (either “inherited” or “de novo”), the number of breakpoints involved (“four or less” and “more than four”), and their structure, for which three types can be distinguished: a) three-way exchange CCRs, b) exceptional CCRs and c) double two-way exchange CCRs. Usually the CCRs have deletions and duplications associated, which are not easily detected unless high-resolution cytogenetic analysis is applied. However, it is the application of this technique, together with the use of the latest molecular tools, such as array-CGH (array-Comparative Genomic Hybridization), that will allow the proper characterization of the possible rearrangements in each CCR. These new technologies will also reveal the genes that have been deleted or duplicated in the CCRs, so that in some cases it may be possible to postulate the mechanism of formation of the CCR and therefore to know the prognosis and/or evolution of patients with a CCR. This article describes a patient, with growth retardation, developmental delay, nystagmus, microcephaly and micrognathia, in which high-resolution G-banded chromosome analysis together with fluorescence in situ hybridisation (FISH) and molecular techniques revealed the presence of an “exceptional”, de novo CCR, with five breakpoints and two deleted regions, involving chromosomes 4 and 8. In addition, a review of the genes located in the deleted regions and their correlation with the patient’s phenotype will be presented.N

Estudio sobre el desarrollo de la identidad en la adolescencia

The aim of this study was to determine how adolescents construct their own identity during this important stage of their lifecycle. We evaluated the identity of a group of 42 adolescents between 11 and 12 years (early adolescence) and between 14 and 15 years (late adolescence), from EOMEIS-II (Extended Version of the Objective Mesure of Ego Identity Estatus created by Adams, Benion and Huh, 1989) which is part of an Ericksonian conceptualization of identity. In the results obtained we can see that students have higher scores on a global level, the most active and mature estatus (identity achieved and moratorium) in the passive and immature estatus (identity foreclosed and diffused). The boys have a higher score than girls in stating the identity moratorium on free time and political identity achievedEl presente trabajo pretende conocer cómo los adolescentes construyen su propia identidad durante esta etapa tan importante del ciclo vital. Valoramos la identidad de un grupo de 42 adolescentes entre 11 y 12 años (adolescencia inicial) y entre 14 y 15 años (adolescencia tardía), a partir del EOMEIS-II (Extended Version of the Objective Mesure of Ego Identity Estatus creada por Adams, Benion y Huh en 1989) que se enmarca en una conceptualización ericksoniana de la identidad. En los resultados observamos que los alumnos presentan una mayor puntuación, a nivel global, en los estatus más activos y maduros (identidad alcanzada y moratoria) que en los estatus pasivos e inmaduros (identidad hipotecada y difusa). Los chicos obtienen una puntuación más elevada que las chicas en las medias en identidad moratoria en el tiempo libre e identidad política alcanzad

Electrophoretic mobility assay to separate supercoiled, catenated, and knotted DNA molecules

For correspondence: María José Fernández Nestosa, [email protected] (2D) agarose gel electrophoresis is the method of choice to analyze DNA topology. The possibility to use E. coli strains with different genetic backgrounds in combination with nicking enzymes and different concentrations of norfloxacin improves the resolution of 2D gels to study the electrophoretic behavior of three different families of DNA topoisomers: supercoiled DNA molecules, post-replicative catenanes, and knotted DNA molecules. Here, we describe the materials and procedures required to optimize their separation by 2D gels. Understanding the differences in their electrophoretic behavior can help explain some important physical characteristics of these different types of DNA topoisomers.Consejo Nacional de Ciencia y TecnologíaPrograma Paraguayo para el Desarrollo de la Ciencia y Tecnología. Programa Nacional de Incentivo a los Investigadore

The impact on plant communities of an invasive alien herb, Oenothera drummondii, varies along the beach-coastal dune gradient

One of the major threats to the diversity of coastal dunes is the expansion of invasive species, such as Oenothera drummondii subsp. drummondii (Onagraceae). In southwestern Spain, we studied the impact of this American invasive on community structure and composition along a beach-dune gradient (beach, foredune, and inland dunes). Differences in density, biomass, and the cover of O. drummondii, the cover of perennial and annuals/biennials species, and Shannon diversity index H’ and dominance λ were compared between invaded and uninvaded sectors. We observed that the intensity and impact of the invasion by O. drummondii varies along the beach-dune gradient. The abundance of the invasive plant increased inland and in consequence, its impact on species richness and composition was highest in inland dunes. Here, plant cover of O. drummondii represented 57.9% of total plant cover; species richness was reduced (with 3.3 fewer species per 2 × 2m plot), diversity H’ was lower while dominance λ was higher. At a broader scale, species richness in the invaded sector was 25% larger than in the uninvaded sector, because of the presence of ruderal species. Species composition also was modified after the invasion. The abundance of a keystone native species was largely reduced (Ammophila arenaria), and some natives became locally extinct (Otanthus maritimus, Eryngium maritimum, Medicago marina and Elymus farctus). We conclude that the high environmental severity of the beach and foredunes results in a reduced invasion and impact of O. drummondii, whereas the milder conditions of inland dunes promote its expansion. The shift in community structure and composition can have an increasing domino effect and thus monitoring, and mitigation actions are necessary. When doing so, the environmental heterogeneity of the beach-dune gradient should be considered, given its relevance in the invasion process.Ministerio de Economía y Competitividad CGL2015-65058-RConsejo Nacional de Ciencia y Tecnología (CONACYT) 779

Multiple seed dispersal modes of an invasive plant species on coastal dunes

Beach evening-primrose (Oenothera drummondii subsp. drummondii) is a perennial herb native to the coastal dunes of the Gulf of Mexico and southeastern USA. During the last century, the species was unintentionally introduced into coastal dune systems around the world. The purpose of this study was to explore the means of dispersal of this invasive in the newly established populations on the coastal dunes of Spain and to determine if they contribute significantly to the invasion process. After reconstructing the history of its spread in Spain from available records, we tested whether dispersion by marine currents can be a mechanism of colonization at regional scale, and whether the presence of native vertebrate participate in the expansion process at local scale. Through laboratory experiments, we demonstrated that the seeds of O. drummondii can be dispersed by seawater, since 0.63% present both buoyancy in seawater and subsequent germination after being washed with fresh water. This capacity for dispersal by marine currents could explain both the expansion of the species along the southwestern coast of Spain and the maintenance of its populations following disturbances such as storms. We also demonstrated that Iberian Hares and European Rabbits can disperse the seeds by endozoochory; seeds recovered from faecal pellets of these species were capable of germination (73 and 63%, respectively). Oenothera drummondii has become an invader only in coastal dunes where these dispersers are present, and with no control actions to regulate their populations. In conclusion, O. drummondii is an alien species with varying dispersal methods, polychory. This helps maintain already established populations and disperses seeds at a regional level, depending on the incidence of storms and the presence or absence of rabbits and hares for efficient local seed dispersion. Thus, management actions that restrict marine and animal dispersal likely have the benefit of limiting the invasive potential of O. drummondii.Consejo Nacional de Ciencia y Tecnología (CONACYT) 7799Ministerio de Economía y Competitividad CGL2015-65058-