Los varones portadores de una translocación cromosómica presentan espermiogramas más patológicos que los varones normales XY / No disponible

Introducción: A pesar de los avances en la reproducción asistida sigue habiendo pacientes infértiles con problemas para lograr un niño sano en casa. De entre todas las causas de infertilidad, las alteraciones cromosómicas, y en particular las translocaciones afectan al 0,2% de la población humana. Objetivos: Valorar las repercusiones sobre la calidad seminal del hecho de ser portador de una translocación cromosómica y comparar con un grupo control de varones infértiles con cariotipo normal. Material y métodos: Estudio retrospectivo sobre una población de 973 varones con cariotipo realizado entre enero de 2008 y diciembre de 2016 en la Unidad de Reproducción Humana del CHUC. De ellos 19 varones fueron portadores de translocaciones y se tomó un grupo de 93 pacientes 46XY como grupo control. Resultados: Se encontraron diferencias significativas en: edad, diagnóstico del seminograma, volumen seminal y concentración de espermatozoides en fresco. Discusión: El diagnóstico de patología seminal como la Oligozoospermia o Azoospermia hace necesario indicar un cariotipo, realización de FISH en espermatozoides y en caso de alteración realización de un consejo genético y DGP

Introduction: Beside the advances in assisted reproduction, steel are infertile patients with problems to have a healthy baby at home. One of the causes of infertility is the chromosomal alterations, and in particular are the chromosomal translocations that affects at 0.2% of human population. Objectives: To value the repercussions on the seminal quality the fact of having a chromosomal translocation compared with a control group of infertile men with normal cariotype. Material and Methods: Retrospective study of a population of 973 male’s cariotype between January 2008 and December 2016 at the Unit of Human Reproduction of the CHUC. 19 of them had a chromosomal translocation and a group of 93 was taken as a control group 46XY. Results: Differences were founded on: age, semiformal diagnostic, seminal volume and sperm concentration in fresh. Discussion: The diagnosis of seminal pathology as Oligozoospermia or Azoospermia makes necessary to indicate a cariotype, a FISH of spermatozoa and if it is pathologic, a genetic counselling and PGD

Discrimination of Urban Spaces with Different Level of Restorativeness Based on the Original and on a Shorter Version of Hartig et al.'s Perceived Restorativeness Scale.

Restorativeness is defined as the potential of the environment to re-establish certain cognitive capacities related to human information processing. The most frequently used instrument for evaluating the restorativeness of places is the Perceived Restorativeness Scale, proposed by Hartig et al. (1991). Later on, shorter versions of the Perceived Restorativeness Scale were proposed. The aim of this work is to evaluate the discriminatory capacity of the original and of a shorter Spanish version of the PRS, considering urban settings previously selected for having different level of restorativeness, according to expert's criteria. The study involved 244 students and used a 3 × 2 mixed experimental design, with two independent variables: Restorativeness of a place (between-subjects), which was manipulated by showing pictures of settings selected with varying levels of restorativeness (high, medium, low), and length of the scale (within-subjects), which was manipulated by asking subjects to fill in both the original and a shorter version of the PRS. The order of presentation of the two scales was counterbalanced. Results show an appropriate reliability for both version of the scale. Items of being-away, fascination, and coherence of the shorter scale correlate more strongly with the corresponding factor of the original scale, compared to the others factors. Both scales produce similar values for the perceived restorativeness of the different places, except for places with low restorativeness.

Medical management with diazepam for electrical status epilepticus during slow wave sleep in children.

OBJECTIVE: Oral diazepam, administered in varying doses, is among the few proposed treatment options for electrical status epilepticus during slow wave sleep in children. We sought to retrospectively evaluate the long-term efficacy of high-dose oral diazepam in reducing electrographic and clinical evidence of electrical status epilepticus during slow wave sleep in children. Additionally, we surveyed caregivers to assess safety and behavioral outcomes related to ongoing therapy. METHODS: We collected demographic and clinical data on children treated for electrical status epilepticus during slow wave sleep between October 2010 and March 2013. We sought to identify the number of patients who achieved at least a 50% reduction in spike wave index on electroencephalograph after receiving high-dose oral diazepam. We also administered a questionnaire to caregivers to assess for behavioral problems and side effects. RESULTS: We identified 42 evaluable patients who received high-dose diazepam (range 0.23-2.02 mg/kg per day) to treat electrical status epilepticus during slow wave sleep. Twenty-six patients had spike reduction data and 18/26 (69.2%) children achieved a greater than 50% reduction in spike wave count from an average of 15.54 to 5.05 (P = 0.001). We received 28 responses to the questionnaire. Some patients experienced new onset of difficulties with problem-solving and speech and writing development. Sleep disturbances (50%) and irritability (57.1%) were the most frequent side effects reported. There did not appear to be a dose-related effect with electroencephalograph changes, behavioral effects, or side effects. CONCLUSIONS: High-dose oral diazepam significantly reduces the spike wave count on electroencephalograph in children with electrical status epilepticus during slow wave sleep. Although this therapy improves electroencephalograph-related findings, it can be associated with concerning neurological and behavioral side effects in some individuals, so further study is warranted.

Cognition in Friedreich ataxia.

Friedreich ataxia (FRDA) is the most frequent of the inherited ataxias. However, very few studies have examined the cognitive status of patients with genetically defined FRDA. Our aim was to study cognitive performance of FRDA patients taking into account the motor problems characteristic of this clinical population. Thirty-six FRDA patients were administered a comprehensive neuropsychological battery measuring multiple domains: processing speed, attention, working memory, executive functions, verbal and visual memory, visuoperceptive and visuospatial skills, visuoconstructive functions, and language. Thirty-one gender, age, years of education, and estimated IQ-matched healthy participants served as control subjects. All participants were native Spanish speakers. Patients showed decreased motor and mental speed, problems in conceptual thinking, a diminished verbal fluency, deficits in acquisition of verbal information and use of semantic strategies in retrieval, visuoperceptive and visuoconstructive problems, and poor action naming. Scores on the depression inventory were significantly higher in patients than controls, but depression did not account for group differences in cognitive performance. The observed pattern of neuropsychological impairment is indicative of executive problems and parieto-temporal dysfunction. Neuropathological and neuroimaging studies with FRDA patients have reported only mild anomalies in cerebral hemispheres. Thus, cognitive impairment in FRDA is probably caused by the interruption of the cerebro-cerebellar circuits that have been proposed as the anatomical substrate of the cerebellar involvement in cognition.

Valoración social y asignación de castigo en transgresiones a las leyes de protección del medio ambiente / Social valuation and punishment assignment in transgressions of environment protection laws

Las transgresiones a las leyes medioambientales son actos cuya «maldad» no es siempre evidente. Esta característica contribuye a que el estudio de la valoración que los individuos hacen del comportamiento antiecológico ilegal resulte de especial interés en la comprensión del cumplimiento de las leyes medioambientales. Con este propósito, 573 personas evaluaron siete transgresiones a las leyes de protección del ambiente en siete escalas valorativas. Los resultados señalan que los participantes valoran diferencialmente las distintas transgresiones; que la indignación y la gravedad de las consecuencias son las escalas que mejor predicen el castigo que los participantes piensan se debería asignar a dichas transgresiones; que las mujeres son más severas al hacer su valoración y que existen diferencias relacionadas con la zona de residencia y la edad (AU)

The "evil" of breaches of environmental law is not always evident. This characteristic contributes to making the study of people’s evaluation of anti-ecological behaviour of special interest for the understanding of environmental law compliance. In this study, 573 participants evaluated seven transgressions of environmental law, on seven scales. The results show that participants differentially evaluate the transgressions; that Indignation and the Severity of the consequences are the scales that best predict the punishment that participants think should be assigned to these transgressions; that women are stricter in evaluating; and that there are marginal differences related to area of residence and age (AU)

[Social valuation and punishment assignment in transgressions of environment protection laws]. / Valoración social y asignación de castigo en transgresiones a las leyes de protección del medio ambiente.

The <> of breaches of environmental law is not always evident. This characteristic contributes to making the study of people's evaluation of anti-ecological behaviour of special interest for the understanding of environmental law compliance. In this study, 573 participants evaluated seven transgressions of environmental law, on seven scales. The results show that participants differentially evaluate the transgressions; that Indignation and the Severity of the consequences are the scales that best predict the punishment that participants think should be assigned to these transgressions; that women are stricter in evaluating; and that there are marginal differences related to area of residence and age.

Solving arithmetic word problems: an analysis of classification as a function of difficulty in children with and without arithmetic LD.

This study was designed to determine a word problem difficulty classification in children with arithmetic learning disabilities (ALD; n = 104) in comparison with typically achieving students (n = 44). We tested variables such as (a) semantic structure (Change, Combine, Compare, and Equalize), (b) operation (subtraction and addition), and (c) position of the unknown quantity in the problem. Facet theory with multidimensional scaling techniques (MINISSA) was used to analyze the underlying dimensions in the responses of each group of participants. Our results indicate that although the word problem difficulty classifications for the 2 groups of children were different, the position of the unknown quantity had a greater influence on the level of difficulty of story problems than other variables. The noncanonical problems--specifically, those with the unknown term in the first place--although difficult for both groups of children, were the most difficult problems for children with ALD.