Abstract This research is based on the hypothesis that the cognitive processes that depend upon analog reading are very different from those required by digital, fragmented, and non-hierarchical. It also aims to pay attention to the relationship established with the medium and the support that enables multimedia, rhizomatic, and non-linear structures. The investigation focuses on the study of the personal connection maintaining pupils with reading habits from various sectors, such as playful, academic, and participatory, in order, through consumption, to define the reading practice, emphasizing reading as a cultural fact of the so-called Generation Z – besides currently conducting university studies. The informants of this mixed character investigation are configured as a plural group and with an international character. The analysis shows information on the reading behavior, commitment to the reading of digital visitors or residents and the impact of the nature of the medium on reading comprehension.

Resumo Esta pesquisa parte da hipótese de que os processos cognitivos que demandam a leitura analógica são muito diferentes daqueles exigidos pela digital, fragmentados e não hierárquicos. Atenta também para a relação estabelecida com o meio e os suportes que possibilitam estruturas multimídia, rizomáticas e não lineares. Tem como foco o estudo da ligação pessoal que os alunos mantêm com o hábito leitor de diversos setores como o lúdico, o acadêmico e o participativo, a fim de, por meio do consumo, definir a prática da leitura, enfatizando a leitura como um fato cultural da chamada Geração Z e, atualmente, cursando estudos universitários. Os informantes desta investigação de caráter misto configuram-se como um grupo plural e de caráter internacional. A análise mostra informações sobre o comportamento de leitura, o comprometimento com a leitura de visitantes ou residentes digitais e o impacto da natureza do meio na compreensão da leitura.

Abstract The objective of this work is to determine, empirically, the challenges that foreign language teachers have faced, in different countries of the world, during the health crisis, derived from Covid-19. In this research, the reasons underlying these difficulties are analyzed, evaluating the role of digital teaching competence in the training of this group. This work is defined with a mixed paradigm in which quantitative and qualitative methods are systematically integrated to ensure optimal triangulation of the data obtained. The main quantitative data collection tool is a questionnaire designed to determine the challenges of the foreign language teacher during the pandemic and that has been distributed digitally to informants. An accidental non-probabilistic sampling has been used that has made it possible to obtain information from sixty-four teachers at different educational levels and located in different countries of the world: Spain, USA, France, Ivory Coast, Australia, Latvia, Barbados, Colombia, Hong Kong, England, Madagascar, Italy, Thailand or Trinidad and Tobago, among others. The qualitative component consists of a set of free-response questions, that seek to validate previously obtained data and demonstrate that teacher digital literacy is a pending subject in foreign language teacher training, a deficiency, even more, appreciated during the health crisis.

Resumen El objetivo de este trabajo es determinar empíricamente los retos a los que se han enfrentado los docentes de lenguas extranjeras durante la crisis sanitaria derivada de la Covid-19. La investigación analiza las razones que subyacen a esas dificultades, evaluándose el papel de la competencia digital docente en la formación de este colectivo. El trabajo se enmarca en un paradigma mixto en el que se integran de forma sistemática métodos cuantitativos y cualitativos con el fin de asegurar una óptima triangulación de los datos obtenidos. La herramienta cuantitativa principal de obtención de datos es un cuestionario diseñado para determinar los desafíos del docente de lenguas extranjeras durante la pandemia y que se ha distribuido de forma digital entre los informantes. Se ha utilizado un muestreo no probabilístico accidental que ha permitido obtener información de 64 docentes en diferentes niveles formativos y localizados en distintos continentes: Europa, América del Norte, América del Sur, África, Asia y Oceanía. El componente cualitativo consiste en un conjunto de preguntas de respuesta libre que pretenden validar los datos obtenidos previamente y demostrar que la alfabetización digital docente es una asignatura pendiente en la formación del profesor de lenguas extranjeras, carencia que se ha apreciado aún más durante la crisis sanitaria.

Abstract: Introduction: The association of family cases of epilepsy and intellectual disability in women was reported in 1971. In 2008, the role of pathogenic variants of the PCDH19 gene in some families were identified. The disease presents with febrile seizure clusters, intellectual disability, and autistic features. Most cases are due to de novo variants, however, there are some inherited cases, with an atypical way of X-linked transmission. Objective: To report the case of a patient with epilepsy carrier of a pathogenic variant of the PCDH19 gene, reviewing the natural history of this condition and the available evidence for its management. Clinical Case: Female patient, with normal history of pregnancy and perinatal period. At 6 months, while febrile, she presented focal motor seizure clusters that repeated at 14, 18, 21 months and 3 years old, always associated with fever, even presenting status epilepticus. She is on therapy with topiramate and valproic acid, achieving 13 seizure-free years. The analysis of the SCN1A gene showed no abnormalities and the study of the PCDH19 gene revealed a de novo heterozygous pathogenic variant. The patient evolved with intellectual disability and severe behavioral disorders that require mental health team support. Conclusions: PCDH19 pathogenic variants have varied phenotypic expression. The genetic diagnosis should be guided with the clinical features. Long-term psychiatric morbidity can be disabling.

Resumen: Introducción: La asociación de casos familiares de epilepsia y discapacidad intelectual (DI) en mujeres fue reportada en 1971. El año 2008, se identificó el rol de variantes patogénicas del gen PCDH19 en algunas familias. La enfermedad se presenta con crisis febriles en cluster, DI y rasgos autistas. La mayoría se debe a variantes de novo, pero hay algunos casos heredados por un modo peculiar de transmisión ligada X. Objetivo: Comunicar el caso de una paciente con epilepsia portadora de una variante patogénica en el gen PCDH1 9, revisando la historia natural de la enfermedad y la evidencia disponible para su ma nejo. Caso Clínico: Paciente femenina, con antecedentes de embarazo y período perinatal normal. A los 6 meses, estando febril, presentó crisis focales motoras en cluster que repitieron a los 14, 18, 21 meses y 3 años siempre asociadas a fiebre, presentando incluso estatus epiléptico. Mantiene biterapia con topiramato y ácido valproico, completando 13 años sin crisis. El estudio del gen SCN1A no mostró anomalías y el estudio del gen PCDH19 reveló una variante patogénica en heterocigosis, “de novo”. La paciente ha evolucionado con DI y alteraciones conductuales severas que requieren aten ción de salud mental. Conclusiones: Las variantes patogénicas PCDH19 tienen expresión fenotípica variada. El diagnóstico genético debe sospecharse con la clínica. La morbilidad psiquiátrica a largo plazo puede ser incapacitante.

A determinação da resiliência das assembleias bênticas é um assunto fundamental para a indústria da aquicultura de mar aberto como tentativa de minimizar as perturbações ambientais. Estudos experimentais são ferramenta importante para o estabelecimento das linhas de base para as comunidades do fundo oceânico. Nesse sentido, um experimento foi conduzido sob três tratamentos (controle, 1x e 3x), nos quais o aporte orgânico (pelotas fecais de peixes) foi adicionado nas quantidades de 1x (10 g de pelotas fecais) e de 3 vezes (30 g). Os resultados mostram que foi encontrada redução na abundância de indivíduos e também no número de espécies entre o controle e os tratamentos com enriquecimento orgânico. Mudanças significativas na estrutura das assembleias também foram encontradas, principalmente devido ao decréscimo do tanaidáceo sensível Apseudes talpa nos tratamento enriquecidos. Os índices AMBI e M-AMBI foram calculados e um decréscimo do status ecológico foi observado no tratamento 3x.

The determination of the resilience of benthic assemblages is a capital issue for the off-shore aquaculture industry in its attempts to minimize environmental disturbances. Experimental studies are an important tool for the establishment of thresholds for macrofaunal assemblages inhabiting sandy seabeds. An experiment was conducted with three treatments (Control, 1x and 3x),in which organic load (fish pellets) was added (1x (10 g of fish pellets) and 3x (30 g)). A reduction in abundance of individuals and species richness was found as between the control and organic-enriched treatments. Significant changes in assemblage structure were also found, mainly due to the decrease of the sensitive tanaid Apseudes talpa in organically-enriched treatments. AMBI and M-AMBI indices were calculated and a decrease of ecological status was observed in treatment 3x.

Confluence of anthropogenic influences is common in coastal areas (e.g., disposal of different pollutants like industrial and domestic sewage, brine, etc.). In this study we assessed whether the combined disposal of domestic sewage and brine altered patterns in the abundance and assemblage structure of subtidal meiofauna inhabiting sandy seabeds. Samples were collected in May 2008 and January 2009 at varying distances (0, 15, and 30 m) from the discharge point. Meiofaunal abundances were consistently larger at 0 m (1663.05 ± 1076.86 ind 10 cm-2, mean ± standard error) than at 15 m (471.21 ± 307.97 ind 10 cm-2) and 30 m (316.50 ± 256.85 ind 10 cm-2) from the discharge outfall. This pattern was particularly accentuated for nematodes. Proximity to the discharge point also altered patterns in meiofaunal assemblage structure, though temporal shifts in the sedimentary composition also contributed to explain differences in the meiofaunal assemblage structure. As a result, meiofauna may be a reliable tool for monitoring studies of the combined disposal of sewage and brine as long as potential confounding factors (here temporal changes in grain size composition) are considered.

La confluencia de diferentes impactos antropogénicos es común en áreas costeras marinas; por ejemplo, el vertido conjunto de varios contaminantes (aguas residuales industriales y domésticas, salmuera, etc.) en la misma zona. En este estudio, se examinó si el vertido combinado de aguas residuales domésticas y salmuera altera los patrones de abundancia y la estructura de la comunidad meiofaunal del medio submareal. Las muestras fueron recolectadas en mayo de 2008 y enero de 2009 a 0, 15 y 30 m de distancia del punto de vertido. Las abundancias meiofaunales fueron más elevadas en el punto de vertido (1663.05 ± 1076.86 individuos 10 cm-2, media ± error estándar) que a 15 m (471.21 ± 307.97 individuos 10 cm-2) y 30 m de distancia (316.50 ± 256.85 individuos 10 cm-2) del punto de vertido. Este patrón de abundancia ha sido acusado particularmente para los nematodos. La proximidad al punto de vertido alteró la estructura de la comunidad meiofaunal, aunque los cambios estacionales en la composición del sedimento también contribuyeron a explicar las diferencias en las abundancias meiofaunales y en la estructura de la comunidad. Como resultado, la meiofauna puede considerarse una herramienta fiable para estudios de seguimiento de vertidos combinados de aguas residuales y salmuera, siempre y cuando la presencia de factores enmascarantes, como los cambios estacionales en la composición granulométrica del sedimento, se incluyan en los diseños.

Background: To ensure health related quality of life (HRQOL) during the survival of patients with prostate cancer (PCa) is a priority. The development of specific HRQOL questionnaires aids to assess the disease impact, its treatment and the patient’s perception (concerns, expectations and interests) that might go unnoticed. Objectives: To develop and validate the first Spanish HRQL questionnaire specific for patients with PCa. Materials and methods: The questionnaire CAVIPRES had 3 phases of development:1.-generation of items (literature research, expert meeting and 2 focus groups with patients), 2.- reduction of items (self-administered survey with a preliminary version and clinimetric and psychometric analyses), 3: validation of the questionnaire (observational study with 2 visits where patients completed the CAVIPRES, SF-36 and UCLA-PCI tests and analysis of psychometric properties in terms of validity, reliability and sensitivity to change). Results: A preliminary list of 75 potential items was obtained in phase 1.412 patients were recruited and answered this preliminary version in phase 2. 35 items were deleted. 436 patients responded to the definitive-30-ítems obtained version (CAVIPRES-30) in Phase 3. CAVIPRES-30 showed feasibility (items lost <4%, ceiling effect: 0% floor effect: 0% in the overall score), high reliability in terms of internal consistency (alpha = 0.77) and re-test reliability (ICC = 0.92). There was a good correlation between tests CAVIPRES and SGF-36 and UCLA-PCI for similar domains Conclusion: The questionnaire CAVIPRES-30 is a feasible, reliable and sensitive to change, useful in clinical research for prostate cancer.

Introducción: Asegurar calidad de vida relacionada con la salud(CVRS) durante la supervivencia del paciente con cáncer de próstata (CaP) es primordial. El desarrollo de cuestionarios específicos de CVRS facilita evaluar el impacto de la enfermedad, de su tratamiento y aspectos de percepción del paciente (preocupaciones, expectativas e intereses) que podrían pasar desapercibidos. Objetivos: Desarrollar y validar el primer cuestionario español de CVRS específico para pacientes con CaP. Materiales y métodos: El cuestionario CAVIPRES tuvo 3 fases de desarrollo: 1-generación de ítems (investigación documental, sesión de expertos y 2 grupos de discusión con pacientes), 2-reducción de ítems (encuesta auto administrada con el precuestionario y análisis clinimétrico y psicométrico), 3: validación del cuestionario (estudio observacional con 2 entrevistas al paciente que completaba los tests CAVIPRES, SF-36 y UCLA-PCI y análisis de propiedades psicométricas en términos de validez, fiabilidad y sensibilidad al cambio). Resultados: La fase 1 generó un precuestionario de 75 potenciales ítems. En la fase 2, 412 pacientes respondieron a la versión preliminar y se excluyeron 35 ítems. En la fase 3, 436 pacientes respondieron a la versión prevalidada. Se obtuvo un cuestionario de 30 ítems para investigación clínica (CAVIPRES-30). El CAVIPRES-30 mostró viabilidad (ítems perdidos <4%), factibilidad (efecto techo: 0% y efecto suelo: 0% en la puntuación global), alta fiabilidad en cuanto a consistencia interna (alfa=0,77) y a fiabilidad re-test (CCI=0,92). Hubo una buena correlación entre CAVIPRES y los tests SGF-36 y UCLA-PCI para dimensiones semejantes. Conclusión: El cuestionario CAVIPRES-30 es un instrumento factible, fiable y sensible al cambio, útil en la investigación clínica del cáncer de próstata.

The methodology used to develop a genetic preventive register for an autosomal dominant genetic disease, taking as a basis the autosomal dominant polycystic kidney disease, is presented. The model designed fot the genetic family history, the access and follow-up methods and the computer program created for the automation of the register, which may be applied to the study of other disseases with similar characteristics, are described. The usefulmess and some of the applications of this register are explained.

Se presenta la metodología aplicada para el desarrollo de un registro genético preventivo para una enfermedad genética autosómica dominante, tomando como base la enfermedad poliquística renal autosómica dominante. Se describe el modelo de historia genética familiar diseñado, los métodos de acceso y seguimiento, así como el programa de computación creado para la automatización del registro, los cuales pudieran aplicarse en el estudio de otras enfermedades con características similares. Se exponen algunas aplicaciones y utilidades de este registro.

It was decided to created an automated genetic registry of the autosomal dominant polycystio kidney disease, taking into account that it is a common phenomenon and that there is a national program for its attention. A methodology developed by the authors was used to enable the study and systematic follow-up of many families and their genetic attention. The clinical, genetic and epidemiological characterization of 111 families was attained during the first three years and the feasibility of the methodology was proved. 2 870 affected patients or at risk received genetic counseling and follow-up. Several investigations were designed to improve their attention and follow-up.

Se decidió crear un registro genético automatizado de la enfermedad poliquística renal autosómica dominante ya que es un fenómeno común y existe un programa nacional para su atención. Se empleó una metodología desarrollada por los autores para facilitar el estudio y seguimiento sistemático de muchas familias y su atención genética. Se logró en los primeros 3 años de funcionamiento, la caracterización clínica, genética y epidemiológica de 111 familias y se comprobó la factibilidad de la metodología desarrollada. Se les ofreció asesoramiento genético y seguimiento a 2 870 personas afectadas o con riesgo y se diseñaron varias investigaciones que contribuyeron a mejorar su atención y seguimiento.