13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins.

PURPOSE: To report the case of identical dichorionic diamniotic female twins with unilateral retinoblastoma in 13q deletion syndrome. METHODS: Clinical and ophthalmoscopic evaluation, combination of multiple ligation-dependent probe amplification, array-comparative genomic hybridization analyses, and magnetic resonance imaging were performed. RESULTS: Peculiar facial features, marked hypotonia, gastroesophageal reflux, interatrial septal defect with left to right shunt and light dilatation of right chambers, 5th finger hypoplasia, 3rd-5th toes clinodactyly, 2nd toe overlapped to 3rd toe, and cutis marmorata were found. Ophthalmoscopic evaluation revealed unilateral retinoblastoma in both girls. Magnetic resonance imaging detected corpus callosum hypoplasia in both twins. A 34.4-Mb deletion involving bands 13q13.2-q21.33 and including the RB1 gene was identified in both twins. The deletion was not present in the DNA of their parents and older brother. CONCLUSIONS: Dysmorphic features in children must be always suspicious of 13q deletion syndrome and a short ophthalmoscopic follow-up is necessary to detect the presence of a retinoblastoma.

Formación interactiva en entornos virtuales : una experiencia en screencasting

L'objectiu de la comunicació és donar a conèixer un estudi sobre els requisits que han de tenir els materials formatius en línia de les biblioteques, i difondre l'experiència pilot que s'ha dut a terme per a elaborar uns materials de formació en format vídeo a la Biblioteca Virtual de la Universitat Oberta de Catalunya.El punt de partida de l'estudi ha estat la necessitat de crear uns materials de formació nous, adaptats a les necessitats dels usuaris en un entorn virtual i en el marc de l'EEES, en el qual els estudiants cada vegada han de ser més autònoms i en què les competències informacionals són bàsiques. Tots aquests aspectes ens han portat a repensar els nostres materials formatius.

Evaluación y Promoción de Competencias Parentales en el Sistema Sanitario Público Andaluz. Proceso Asistencial Integrado Embarazo, Parto y Puerperio.

Con la colaboración del Departamento de Psicología Evolutiva y de la Educación de la Universidad de Sevilla

Proyecto APEGO sobre evaluación y promoción de competencias parentales en el sistema sanitario público andaluz

Consta de dos partes.

Novel point mutations in the ERG11 gene in clinical isolates of azole resistant Candida species

The azoles are the class of medications most commonly used to fight infections caused by Candida sp. Typically, resistance can be attributed to mutations in ERG11 gene (CYP51) which encodes the cytochrome P450 14α-demethylase, the primary target for the activity of azoles. The objective of this study was to identify mutations in the coding region of theERG11 gene in clinical isolates of Candidaspecies known to be resistant to azoles. We identified three new synonymous mutations in the ERG11 gene in the isolates of Candida glabrata (C108G, C423T and A1581G) and two new nonsynonymous mutations in the isolates of Candida krusei - A497C (Y166S) and G1570A (G524R). The functional consequence of these nonsynonymous mutations was predicted using evolutionary conservation scores. The G524R mutation did not have effect on 14α-demethylase functionality, while the Y166S mutation was found to affect the enzyme. This observation suggests a possible link between the mutation and dose-dependent sensitivity to voriconazole in the clinical isolate of C. krusei. Although the presence of the Y166S in phenotype of reduced azole sensitivity observed in isolate C. kruseidemands investigation, it might contribute to the search of new therapeutic agents against resistant Candida isolates.

Intelligent task-level grasp mapping for robot control

In the future, robots will enter our everyday lives to help us with various tasks.For a complete integration and cooperation with humans, these robots needto be able to acquire new skills. Sensor capabilities for navigation in real humanenvironments and intelligent interaction with humans are some of the keychallenges.Learning by demonstration systems focus on the problem of human robotinteraction, and let the human teach the robot by demonstrating the task usinghis own hands. In this thesis, we present a solution to a subproblem within thelearning by demonstration field, namely human-robot grasp mapping. Robotgrasping of objects in a home or office environment is challenging problem.Programming by demonstration systems, can give important skills for aidingthe robot in the grasping task.The thesis presents two techniques for human-robot grasp mapping, directrobot imitation from human demonstrator and intelligent grasp imitation. Inintelligent grasp mapping, the robot takes the size and shape of the object intoconsideration, while for direct mapping, only the pose of the human hand isavailable.These are evaluated in a simulated environment on several robot platforms.The results show that knowing the object shape and size for a grasping taskimproves the robot precision and performance

Guidelines for the use and interpretation of assays for monitoring autophagy.

In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.

Analysis and evaluation of techniques for the extraction of classes in the ontology learning process

This paper analyzes and evaluates, in the context of Ontology learning, some techniques to identify and extract candidate terms to classes of a taxonomy. Besides, this work points out some inconsistencies that may be occurring in the preprocessing of text corpus, and proposes techniques to obtain good terms candidate to classes of a taxonomy.

Dimensionamento informatizado de profissionais de enfermagem: inovação tecnológica

Esse estudo, de produção tecnológica, teve como objetivo desenvolver um programa aplicativo para dimensionar o quadro de profissionais de enfermagem em unidades de internação hospitalar. O método seguiu as fases de concepção, detalhamento e construção e prototipagem do sistema de forma iterativa e cíclica. O programa computacional, denominado de Dimensionamento de Profissionais de Enfermagem - DIPE, é uma ferramenta que operacionaliza o dimensionamento, fundamentado na carga de trabalho da unidade, para a adequada relação profissionais/pacientes, segundo os tipos de cuidado; no Índice de Segurança Técnica (IST) para cobertura das ausências previstas (folgas e férias) e não previstas (faltas e licenças) e no tempo despendido na jornada de trabalho para as pausas dos profissionais. O sistema está disponível no site da Escola de Enfermagem da USP: http://www.ee.usp.br/dipe. A incorporação desse avanço tecnológico constitui importante estratégia gerencial para a melhoria da qualidade da atenção à saúde.

Proposta educacional virtual sobre atendimento da ressuscitação cardiopulmonar no recém-nascido

O objetivo deste estudo foi desenvolver uma proposta educacional virtual, utilizando recursos multimídia, visando inovar, dinamizar e diversificar espaços de comunicação e interação, favorecendo o processo de ensino aprendizagem autônomo e reflexivo do enfermeiro. Este trabalho constitui-se de uma pesquisa aplicada, seguindo as fases cíclicas e interativas de concepção e planejamento, desenvolvimento e implementação. A proposta educacional foi desenvolvida na plataforma TelEduc, utilizando ferramentas de organização, de conteúdo, de comunicação, do aluno e do administrador. Os módulos de ensino referiram-se as seguintes temáticas: Módulo 1 - Fundamentos de anatomia e fisiologia cardíacas do recém-nascido; Módulo 2 - Fatores de risco para ocorrência da parada cardiorrespiratória no recém-nascido; Módulo 3 - Planejamento da assistência de enfermagem; Módulo 4 - Medicações empregadas na parada cardiorrespiratória no recém-nascido; e Módulo 5 - Atendimento da parada cardiorrespiratória no recém-nascido. Este projeto pode contribuir com a inovação do ensino em enfermagem a partir de uma proposta educacional virtual sobre um tema de relevância que é o atendimento da ressuscitação cardiopulmonar do recém-nascido.

Dimensionamento informatizado de profissionais de enfermagem: avaliação de um software

A complexidade para operacionalizar o método de dimensionamento de profissionais de enfermagem, diante das inúmeras variáveis relativas à identificação da carga de trabalho, do tempo efetivo de trabalho dos profissionais e do Índice de Segurança Técnica (IST), evidenciou a necessidade de desenvolver um software, denominado: Dimensionamento Informatizado de Profissionais de Enfermagem (DIPE). Este estudo exploratório descritivo teve como objetivo avaliar a qualidade técnica e o desempenho funcional do DIPE. Participaram como sujeitos da pesquisa dezoito avaliadores, sendo dez enfermeiros docentes ou enfermeiros gerentes de unidades de saúde hospitalar e oito especialistas em informática em saúde. A avaliação do software baseou-se na norma NBR ISO/IEC 9126-1, considerando as características funcionalidade, confiabilidade, usabilidade, eficiência e ma­nutenibilidade. A avaliação do software obteve resultados positivos, sobre os quais os avaliadores concordaram em todas as características avaliadas. As sugestões relatadas serão importantes para a proposição de melhorias e aprimoramento do DIPE.

Forces

Aquest treball descriu una unitat didàctica de Física per estudiants de 4rt d’ESO. Els següents conceptes son introduïts i practicats durant un total de nou sessions: massa i pes, diferents tipus de forces, representació vectorial de forces, i dinàmica. A més dels exercicis de classe estàndard, els alumnes són exposats a dos laboratoris virtuals diferents que els ajuden a visualitzar i explorar els conceptes esmentats. Els estudiants més motivats poden escollir fer exercicis addicionals d’una llista d’activitats lliures. La unitat inclou una descripció completa de totes les activitats proposades.

Projecte desplegament d'una xarxa d'operador de fibra òptica al 22@ i a diverses ciutats del continent

En la primera fase s’interconnectarien a través d’un anell de fibra òptica tres hotels d’una mateixa cadena en l’àrea del 22@ de Barcelona. S’ofereixen els serveis de: intranet, telefonia IP amb interconnexió a la PSTN, videoconferència i internet. Utilitzem VLANs per gestionar la qualitat de servei i la seguretat. El nostre model teòric inclou estimacions de tràfic, comparativa de fabricants, valoració econòmica i diagrama de Gantt d’implantació. A més, ampliem la gamma de serveis amb una xarxa Wimax al 22@ en previsió de futur ús. I augmentem la disponibilitat del servei amb un enllaç ràdio dedicat de backup des d’un dels nodes cap a la torre de Collserola, en la banda dels 18GHz, amb antenes parabòliques. Hem fet càlculs d’atenuació. En la segona i successives fases s’amplia la xarxa de FO a nivell nacional i internacional per a treballar com a operador d’empreses, amb un acurat disseny i selecció dels aparells òptics.