A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering

A number of speech disorders including stuttering have been shown to have important genetic contributions, as indicated by high heritability estimates from twin and other studies. We studied the potential contribution to stuttering from variants in the FOXP2 gene, which have previously been associated with developmental verbal dyspraxia, and from variants in the CNTNAP2 gene, which have been associated with specific language impairment (SLI). DNA sequence analysis of these two genes in a group of 602 unrelated cases, all with familial persistent developmental stuttering, revealed no excess of potentially deleterious coding sequence variants in the cases compared to a matched group of 487 well characterized neurologically normal controls. This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering. Using an expanded subject data set, we again found that NAGPA showed significantly different mutation frequencies in North Americans of European descent (p = 0.0091) and a significant difference existed in the mutation frequency of GNPTAB in Brazilians (p = 0.00050). No significant differences in mutation frequency in the FOXP2 and CNTNAP2 genes were observed between cases and controls. To examine the pattern of expression of these five genes in the human brain, real time quantitative reverse transcription PCR was performed on RNA purified from 27 different human brain regions. The expression patterns of FOXP2 and CNTNAP2 were generally different from those of GNPTAB, GNPTG and NAPGA in terms of relatively lower expression in the cerebellum. This study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering. This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI. Published by Elsevier Inc.

Desenvolvimento de sistemas orientado a modelos

The Software Engineering originated with the motivation to mass produce components for increased productivity in production systems. Since its origins, numerous studies have been proposed on the subject as new features in the creation of systems, like the Object- Oriented Programming and Aspect-Oriented Programming, have been established and methodologies have been developed to control them efficiently. However, years of studies in the area were not sufficient to create a methodology for reusing software artifacts really efficient and easy enough to be widespread. Given this, the Model-Driven Development (MDD) is trying to promote it using the modeling of systems as a reference, becoming part of it and establishing a huge productivity gain. One of his approaches is called Model-Driven Software Development (MDSD), which focuses on improving the practices and systems development using Domain-Specific Languages (DSL) for this purpose. In this Final Paper, Xtext is used as a tool to prove the productivity and efficiency of this approach, and for that bibliographic studies were made on the approach and the tool, and show the methodology and a case study to demonstrate results and conclusions regarding this work

Relações públicas e o Brand Management: storytelling 2.0 na construção de relacionamentos

According to the Informational Society of the twentieth century, man develops society of the spectacle, where life becomes virtual and the individual ceases to be a spectator becoming the protagonist of wikiciberepopéia and organizations seeking to gain the attention and time of its consumers through new communication strategies. If the great epics of mankind brought mythical heroes, divine, with powers (mostly above the mortals), in the era of new technologies, the common man is in the hands the opportunity to become the hero of his own ciberepopéia. Increasingly resistant to traditional advertising, the new model of media consumer, the prosumer, the storytelling is transforming into one of the main communication tools of contemporary organizations. Offer your audience a creative and relevant content across several media platforms is a major brand positioning strategies currently used, in addition to providing the transmission of values and organizational principles in a subjective manner. Storytelling where objects are extensions of the human body (eg, the cell can be treated as an extension of the ears) is a strong indication of a technocratic society, because we can consider the new technologies as extensions of the human brain (as new store technologies, create meanings, share information through a specific language) and the individual who is on the edge of new technology ends up being excluded from certain social events. This new world tends to put an end to separation between seemingly contrary ideas, such as reality/fiction, natural/cultural and the man who emerges from this medium is not the creator, but rather, transforming what already exists. The current human evolution takes place from about half the human mind and tell stories that go beyond the media saturation that really emocionem and who have a real meaning for those who listen, to be interconnected with the socio-environmental reality of this new consumer, is a major chall...

Correlates of sports practice, occupational and leisure-time physical activity in Brazilian adolescents

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Comunicação midiática e educação na cibercultura

This article aims to discuss how communication can contribute effectively with education in cyberculture, by design of educational environments that are configured according to the specific language of cyberspace. We consider digital technologies as language and therefore as forms of communication. As a theoretical basis, we use Peircean semiotics, for questions relating to language; the concept of technologies of intelligence, to the relation of the technique with digital media and the concepts of emergency and of transmiting architecture to think of cyberspace communication interfaces. We made a brief reflection on the political, administrative, social, cultural and economic problems that hinder the development of more appropriate forms of education for cyberculture. Then we point out some similarities between the fields of education and communication and made some observations about qualities of digital media that can contribute to a mbetter use of it as an educational tool. Finally, we indicate an educational and communicational gaming approach as a possible way to make communication technologies interactive audiovisual interfaces, able to educate in the age of cyberculture.

Oral health-related quality of life of paediatric patients with AIDS

Abstract Background Children with Acquired Immune Deficiency Syndrome (AIDS) exhibit impaired dental status, which can affect their quality of life. This study assessed the oral health-related quality of life of these patients and associated factors. Methods The "Child Perceptions Questionnaire 11-14", rating overall and domain-specific (oral symptoms, functional limitations, emotional well being, and social well being) oral health-related quality of life (OHR-QoL) was completed by 88 children with AIDS assisted in the Child Institute, Sao Paulo, Brazil. Parents or guardians provided behavioural and socio-demographic information. The clinical status was provided by hospital records. OHR-QoL covariates were assessed by Poisson regression analysis. Results The most affected OHR-QoL subscale concerned oral symptoms, whose rate was 23.9%. The direct answer for oral health and well being made up a rate of 47.7%. Brushing the teeth less than two times a day and viral load exceeding 10,000 HIV-RNA copies per millilitre of plasma were directly associated (p < 0.05) with a poorer oral health-related quality of life. Conclusions Children with more severe AIDS manifestations complained of poorer status of oral symptoms, functional limitations, emotional and social well being related to their oral health. Recognizing the factors that are associated with poorer OHR-QoL in children with AIDS may contribute to the planning of dental services for this population.

Como crianças e adolescentes com Distúrbio Específico de Linguagem compreendem a linguagem oral?

O objetivo deste trabalho foi analisar estudos relevantes sobre as alterações de compreensão em crianças e adolescentes com Distúrbio Específico de Linguagem (DEL). Para tanto, realizou-se levantamento bibliográfico em bases de dados científicas. A literatura revela que essa população pode apresentar dificuldade importante de compreensão oral, atribuída ou à falta de conhecimento linguístico ou a falhas de processamento. Conforme se desenvolvem, as crianças com DEL apresentam evolução das habilidades de compreensão. No entanto, dificuldades persistem mesmo em faixas etárias mais avançadas, como a adolescência. Dessa forma, é importante diagnosticar precocemente tais alterações e intervir devidamente. Pesquisas científicas comprovam a efetividade da terapia fonoaudiológica por meio de técnicas variadas.

Relação entre a porcentagem de consoantes corretas e a memória operacional fonológica na alteração específica de linguagem

OBJETIVO: Verificar se há influência da idade no desempenho fonológico e na memória operacional e se há correlação entre o desempenho em prova de memória operacional fonológica e o índice de gravidade da alteração fonológica em crianças com alteração específica de linguagem. MÉTODOS: Participaram deste estudo 30 sujeitos com diagnóstico de alteração específica de linguagem, com idades entre 4 e 6 anos. Foram coletados dos prontuários dados referentes ao desempenho nas provas de memória operacional fonológica e fonologia (utilizando o índice de Porcentagem de Consoantes Corretas - Revisado). Análises estatísticas pertinentes foram realizadas. RESULTADOS: Não houve influência da idade para a fonologia e para a memória operacional, mas houve correlação positiva na comparação do desempenho na prova de memória operacional fonológica com ambas as tarefas da prova de fonologia. CONCLUSÃO: A idade não favorece o aprimoramento das habilidades fonológicas e de memória operacional fonológica. Porém, há correlação positiva entre a memória operacional fonológica e o índice de gravidade da alteração fonológica, o que significa que quanto melhor a produção de fala, melhor o desempenho da memória operacional fonológica.

Architectures for Context Aware Services in Smart Environments

This thesis deals with Context Aware Services, Smart Environments, Context Management and solutions for Devices and Service Interoperability. Multi-vendor devices offer an increasing number of services and end-user applications that base their value on the ability to exploit the information originating from the surrounding environment by means of an increasing number of embedded sensors, e.g. GPS, compass, RFID readers, cameras and so on. However, usually such devices are not able to exchange information because of the lack of a shared data storage and common information exchange methods. A large number of standards and domain specific building blocks are available and are heavily used in today's products. However, the use of these solutions based on ready-to-use modules is not without problems. The integration and cooperation of different kinds of modules can be daunting because of growing complexity and dependency. In this scenarios it might be interesting to have an infrastructure that makes the coexistence of multi-vendor devices easy, while enabling low cost development and smooth access to services. This sort of technologies glue should reduce both software and hardware integration costs by removing the trouble of interoperability. The result should also lead to faster and simplified design, development and, deployment of cross-domain applications. This thesis is mainly focused on SW architectures supporting context aware service providers especially on the following subjects: - user preferences service adaptation - context management - content management - information interoperability - multivendor device interoperability - communication and connectivity interoperability Experimental activities were carried out in several domains including Cultural Heritage, indoor and personal smart spaces – all of which are considered significant test-beds in Context Aware Computing. The work evolved within european and national projects: on the europen side, I carried out my research activity within EPOCH, the FP6 Network of Excellence on “Processing Open Cultural Heritage” and within SOFIA, a project of the ARTEMIS JU on embedded systems. I worked in cooperation with several international establishments, including the University of Kent, VTT (the Technical Reserarch Center of Finland) and Eurotech. On the national side I contributed to a one-to-one research contract between ARCES and Telecom Italia. The first part of the thesis is focused on problem statement and related work and addresses interoperability issues and related architecture components. The second part is focused on specific architectures and frameworks: - MobiComp: a context management framework that I used in cultural heritage applications - CAB: a context, preference and profile based application broker which I designed within EPOCH Network of Excellence - M3: "Semantic Web based" information sharing infrastructure for smart spaces designed by Nokia within the European project SOFIA - NoTa: a service and transport independent connectivity framework - OSGi: the well known Java based service support framework The final section is dedicated to the middleware, the tools and, the SW agents developed during my Doctorate time to support context-aware services in smart environments.

Towards model driven software development for Arduino platforms: a DSL and automatic code generation

La tesi ha lo scopo di esplorare la produzione di sistemi software per Embedded Systems mediante l'utilizzo di tecniche relative al mondo del Model Driven Software Development. La fase più importante dello sviluppo sarà la definizione di un Meta-Modello che caratterizza i concetti fondamentali relativi agli embedded systems. Tale modello cercherà di astrarre dalla particolare piattaforma utilizzata ed individuare quali astrazioni caratterizzano il mondo degli embedded systems in generale. Tale meta-modello sarà quindi di tipo platform-independent. Per la generazione automatica di codice è stata adottata una piattaforma di riferimento, cioè Arduino. Arduino è un sistema embedded che si sta sempre più affermando perché coniuga un buon livello di performance ed un prezzo relativamente basso. Tale piattaforma permette lo sviluppo di sistemi special purpose che utilizzano sensori ed attuatori di vario genere, facilmente connessi ai pin messi a disposizione. Il meta-modello definito è un'istanza del meta-metamodello MOF, definito formalmente dall'organizzazione OMG. Questo permette allo sviluppatore di pensare ad un sistema sotto forma di modello, istanza del meta-modello definito. Un meta-modello può essere considerato anche come la sintassi astratta di un linguaggio, quindi può essere definito da un insieme di regole EBNF. La tecnologia utilizzata per la definizione del meta-modello è stata Xtext: un framework che permette la scrittura di regole EBNF e che genera automaticamente il modello Ecore associato al meta-modello definito. Ecore è l'implementazione di EMOF in ambiente Eclipse. Xtext genera inoltre dei plugin che permettono di avere un editor guidato dalla sintassi, definita nel meta-modello. La generazione automatica di codice è stata realizzata usando il linguaggio Xtend2. Tale linguaggio permette di esplorare l'Abstract Syntax Tree generato dalla traduzione del modello in Ecore e di generare tutti i file di codice necessari. Il codice generato fornisce praticamente tutta la schematic part dell'applicazione, mentre lascia all'application designer lo sviluppo della business logic. Dopo la definizione del meta-modello di un sistema embedded, il livello di astrazione è stato spostato più in alto, andando verso la definizione della parte di meta-modello relativa all'interazione di un sistema embedded con altri sistemi. Ci si è quindi spostati verso un ottica di Sistema, inteso come insieme di sistemi concentrati che interagiscono. Tale difinizione viene fatta dal punto di vista del sistema concentrato di cui si sta definendo il modello. Nella tesi viene inoltre introdotto un caso di studio che, anche se abbastanza semplice, fornisce un esempio ed un tutorial allo sviluppo di applicazioni mediante l'uso del meta-modello. Ci permette inoltre di notare come il compito dell'application designer diventi piuttosto semplice ed immediato, sempre se basato su una buona analisi del problema. I risultati ottenuti sono stati di buona qualità ed il meta-modello viene tradotto in codice che funziona correttamente.

L’interpretazione simultanea dal polacco all’italiano: le strategie per affrontare le catene nominali

La presente tesi rappresenta il primo studio dedicato all’interpretazione simultanea dal polacco all’italiano. La presente ricerca cerca di identificare il modo in cui interpreti di comprovata esperienza gestiscono alcune difficoltà tipiche della sintassi polacca fortemente divergenti da quella italiana. La scelta di studiare le catene nominali deriva dal confronto di quanto emerso dalle indagini sulla linguistica contrastiva con un’inchiesta tra gli interpreti accreditati presso le istituzioni europee per quella combinazione. Il primo capitolo è dedicato ad una panoramica sui contatti passati e presenti tra l’Italia e la Polonia e ad una riflessione sulla lingua polacca in chiave contrastiva con l’italiano. Il secondo capitolo si concentra sulla ricerca nell’ambito dell’interpretazione simultanea, in particolare sugli studi contrastivi e sulla discussione delle strategie usate dagli interpreti. Il terzo capitolo approfondisce il contesto di questo studio ovvero le istituzioni europee, il il multilinguismo e il regime linguistico al Parlamento Europeo. Il quarto capitolo include l’indagine del lavoro, condotta su un ampio corpus di dati. Sono stati infatti trascritti e analizzati tutti gli interventi tenuti in lingua polacca in occasione delle sedute parlamentari a Strasburgo e a Bruxelles del 2011 e del primo semestre 2009 e le relative interppretazioni in italiano (per un totale di oltre 9 ore di parlato per lingua). Dall’analisi è risultato che l’interprete nella maggior parte dei casi cerca, nonostante la velocità d’eloquio dell’oratore, di riprodurre fedelmente il messaggio. Tuttavia, qualora questo non risulti possibile, si è notato come gli interpreti ricorrano in maniera consapevole all’omissione di quelle informazioni desumibili o dal contesto o dalle conoscenze pregresse dell’ascoltatore. Di conseguenza la riduzione non rappresenta una strategia di emergenza ma una risorsa da applicare consapevolmente per superare le difficoltà poste da lunghe sequenze di sostantivi.

Domains of physical activity and all-cause mortality: systematic review and dose-response meta-analysis of cohort studies

Background The dose–response relation between physical activity and all-cause mortality is not well defined at present. We conducted a systematic review and meta-analysis to determine the association with all-cause mortality of different domains of physical activity and of defined increases in physical activity and energy expenditure. Methods MEDLINE, Embase and the Cochrane Library were searched up to September 2010 for cohort studies examining all-cause mortality across different domains and levels of physical activity in adult general populations. We estimated combined risk ratios (RRs) associated with defined increments and recommended levels, using random-effects meta-analysis and dose–response meta-regression models. Results Data from 80 studies with 1 338 143 participants (118 121 deaths) were included. Combined RRs comparing highest with lowest activity levels were 0.65 [95% confidence interval (95% CI) 0.60–0.71] for total activity, 0.74 (95% CI 0.70–0.77) for leisure activity, 0.64 (95% CI 0.55–0.75) for activities of daily living and 0.83 (95% CI 0.71–0.97) for occupational activity. RRs per 1-h increment per week were 0.91 (95% CI 0.87–0.94) for vigorous exercise and 0.96 (95% CI 0.93–0.98) for moderate-intensity activities of daily living. RRs corresponding to 150 and 300 min/week of moderate to vigorous activity were 0.86 (95% CI 0.80–0.92) and 0.74 (95% CI 0.65–0.85), respectively. Mortality reductions were more pronounced in women. Conclusion Higher levels of total and domain-specific physical activity were associated with reduced all-cause mortality. Risk reduction per unit of time increase was largest for vigorous exercise. Moderate-intensity activities of daily living were to a lesser extent beneficial in reducing mortality.

Hospital use of young children in Switzerland: a nation-wide study based on a complete survey over 4 years

Background Young children are known to be the most frequent hospital users compared to older children and young adults. Therefore, they are an important population from economic and policy perspectives of health care delivery. In Switzerland complete hospitalization discharge records for children [<5 years] of four consecutive years [2002–2005] were evaluated in order to analyze variation in patterns of hospital use. Methods Stationary and outpatient hospitalization rates on aggregated ZIP code level were calculated based on census data provided by the Swiss federal statistical office (BfS). Thirty-seven hospital service areas for children [HSAP] were created with the method of "small area analysis", reflecting user-based health markets. Descriptive statistics and general linear models were applied to analyze the data. Results The mean stationary hospitalization rate over four years was 66.1 discharges per 1000 children. Hospitalizations for respiratory problem are most dominant in young children (25.9%) and highest hospitalization rates are associated with geographical factors of urban areas and specific language regions. Statistical models yielded significant effect estimates for these factors and a significant association between ambulatory/outpatient and stationary hospitalization rates. Conclusion The utilization-based approach, using HSAP as spatial representation of user-based health markets, is a valid instrument and allows assessing the supply and demand of children's health care services. The study provides for the first time estimates for several factors associated with the large variation in the utilization and provision of paediatric health care resources in Switzerland.

Kostenorientiertes Controlling von E-Learning-Plattformen mit dem TCO-Konzept

Zur administrativen Unterstützung von Lehr- und Lernprozessen werden E-Learning-Plattformen eingesetzt, die auf der Grundlage des Internet Funktionen zur Distribution von Lehr- und Lernmaterialien und zur Kommunikation zwischen Lehrenden und Lernenden anbieten. Zahlreiche wissenschaftliche Beiträge und Marktstudien beschäftigen sich mit der multikriteriellen Evaluation dieser Softwareprodukte zur informatorischen Fundierung strategischer Investitionsentscheidungen. Demgegenüber werden Instrumente zum kostenorientierten Controlling von E-Learning-Plattformen allenfalls marginal thematisiert. Dieser Beitrag greift daher das Konzept der Total Cost of Ownership (TCO) auf, das einen methodischen Ansatzpunkt zur Schaffung von Kostentransparenz von E-Learning-Plattformen bildet. Aufbauend auf den konzeptionellen Grundlagen werden Problembereiche und Anwendungspotenziale für das kostenorientierte Controlling von LMS identifiziert. Zur softwaregestützten Konstruktion und Analyse von TCO-Modellen wird das Open Source-Werkzeug TCO-Tool eingeführt und seine Anwendung anhand eines synthetischen Fallbeispiels erörtert. Abschließend erfolgt die Identifikation weiterführender Entwicklungsperspektiven des TCO-Konzepts im Kontext des E-Learning. Die dargestellte Thematik ist nicht nur von theoretischem Interesse, sondern adressiert auch den steigenden Bedarf von Akteuren aus der Bildungspraxis nach Instrumenten zur informatorischen Fundierung von Investitions- und Desinvestitionsentscheidungen im Umfeld des E-Learning.

Health related quality of life: a changing construct?

In 186 patients with early colon cancer, we investigated the assumption that the meaning of 'quality of life' (QL) remains constant over time. Within a phase-III trial (SAKK 40/93), patients estimated both their overall QL and a range of disease- and treatment-related domains at five timepoints, comprising three concurrent and 2 retrospective estimates: their pre-surgery QL both before surgery and retrospectively thereafter, and their pre-adjuvant QL both at the beginning of adjuvant treatment and retrospectively about 2 months later, and their current QL 2 weeks thereafter. Multilevel models were developed to determine whether the selected domains made stable contributions to overall QL at the concurrent estimates. The weights of the domains changed over time. They did not differ significantly according to whether patients were considering their concurrent state or reflecting on this state at a later timepoint. In the process of adaptation, patients with early colon cancer substantially change the relative importance of QL domains to overall QL. This finding argues for QL as a changing construct and against the assumption that domain-specific weights are stable across distinct clinical phases.