Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3

We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes. (C) 2001 Wiley-Liss, Inc.

Communicating vegetation management science to land managers and other stakeholders

Science communication. including extension services. plays a key role in achieving sustainable native vegetation management. One of the pivotal aspects of the debate on sustainable vegetation management is the scientific information underpinning policy-making. In recent years. extension services have Shifted their focus from top-down technology transfer to bottom-up participation and empowerment. I here has also been a broadening of communication strategies to recognise the range of stakeholders involved in native vegetation management and to encompass environmental concerns. This paper examines the differences between government approaches to extension services to deliver policy and the need for effective communication to address broader science issues that underpin native vegetation management. The importance of knowing the learning styles of the stakeholders involved in native vegetation management is discussed at a time of increasing reliance on mass communication for information exchange and the importance of personal communication to achieve on-ground sustainable management. Critical factors for effective science-management communication are identified Such as: (i) undertaking scientific studies (research) with community involvement, acceptance and agreed understanding of project objectives (ii) realistic community consultation periods: (iii) matching communication channels with stakeholder needs; (iv) combining scientific with local knowledge in in holistic (biophysical and social) approach to understanding in issued and (v) regional partnerships. These communication factors are considered to be essential to implementing on-ground natural resource management strategics and actions, including those concerned with native vegetation management.

The spread of Angiostrongylus cantonensis in Australia

Until the recent establishment of Angiostrongylus cantonensis in North America. Australia was the only developed region endemic for this parasite. Almost 50 years ago the life cycle was elucidated there, in the city of Brisbane, and the first human infections probably occurred in 1959. From the 1970s, increasing numbers of autochthonous infections have been reported along the central east coast of the continent (southeast Queensland and northern New South Wales), involving humans, rats, dogs, horses, flying foxes and marsupials. Ten years ago, the parasite was discovered in Sydney, almost 1,000 km to the south, in dogs. In that city, it has since been diagnosed as a cause of neurological disease in increasing numbers of dogs, flying foxes, marsupials and zoo primates. Presumably, these infections resulted from the ingestion of snails or slugs, and it seems that virtually all species of native and exotic terrestrial molluscs can serve as intermediate hosts. It is not known how the parasite was introduced to this continent, or how it has spread over such an extensive territory, although eventually its range could encompass the entire east coast, and potentially other regions. It is also not known if the almost identical, native species, A. mackerrasae, is able to infect people (or other non-rodent hosts). All worms recovered to date, from one fatal human case, and from many animal infections, have been confirmed as A. cantonensis.

The validity of publication and citation counts for Sociology and other selected disciplines

The use of bibliometric data is a means of comparing. research productivity and scholarly. impact for individuals, work groups, institutions and nations within and between disciplines. Central to this debate is the notion that disciplines differ in the ways in which,they exchange ideas and disseminate information and therefore have diverse publishing and citation patterns. In this article we use two different approaches to compiling bibliometric data to compare publishing patterns of five different disciplines that encompass Molecular Biology; Administration/Political Science, Psychology,. Philosophy and Sociology/Anthropology. We find that the social sciences differ from each other as well as from the physical sciences in their publication and citation patterns. Further, while the different ways of organizing the data produce somewhat different results, the substantive findings for the general patterning of publications and citations of disciplines are consistent for both data sets. Sociology/Anthropology, when compared with the other disciplines, shows substantial differences across universities.

Does participation in a pain course based on the international association for the study of pain's curricula guidelines change student knowledge about pain?

The People in Pain course was set up as a joint initiative of the Departments of Occupational Therapy and Physiotherapy within the School of Health and Rehabilitation Sciences at The University of Queensland. It was instigated in response to the publication of Pain Curricula for Occupational Therapy and Physiotherapy by the International Association for the Study of Pain (IASP) in 1994 (1). The first year it was offered, the "People in Pain" course comprised 14 h of lecture content. It was then expanded to encompass 28 h of lectures and seminar involvement. OBJECTIVES: To evaluate the impact of participation in a university pain course that meets the IASP pain curricula guidelines to increase health professional students' knowledge about pain. METHODS: Students who participated in the People in Pain course over the first three years were invited to complete the Revised Pain Knowledge and Attitudes Questionnaire (R-PKAQ) pre- and postcourse. Data obtained from 22 students in the short course formed a pilot project, and data from 22 students in the longer version of the course were used in the present study. RESULTS: Examination of the correlation matrix indicated substantial correlations between all R-PKAQ subscales except physiological basis of pain and pharmacological management of pain. In both the pilot project during the first year of the course and the expanded course in the following two years, significant improvement was found in the students' knowledge on five of the six subscales of the R-PKAQ: physiological basis of pain, psychological factors of pain perception, assessment and measurement of pain, cognitive-behavioural methods of pain relief, and pharmacological management of pain. Improvements in the developmental aspects of pain perception subscale failed to reach significance. CONCLUSIONS: An integrated pain course developed according to the pain curriculum guidelines developed by the IASP resulted in increased student knowledge regardless of the length of the program attended.

Conception of a flexible integrator and lean model for integrated management systems

Management systems standards (MSSs) have developed in an unprecedented manner in the last few years. These MSS cover a wide array of different disciplines, aims and activities of organisations. Also, organisations are populated with an enormous diversity of independent management systems (MSs). An integrated management system (IMS) tends to integrate some or all components of the business. Maximising their integration in one coherent and efficient MS is increasingly a strategic priority and constitutes an opportunity for businesses to be more competitive and consequently, promote its sustainable success. Those organisations that are quicker and more efficient in their integration and continuous improvement will have a competitive advantage in obtaining sustainable value in our global and competitive business world. Several scholars have proposed various theoretical approaches regarding the integration of management sub-systems, leading to the conclusion that there is no common practice for all organisations as they encompass different characteristics. One other author shows that several tangible and intangible gains for organisations, as well as to their internal and external stakeholders, are achieved with the integration of the individual standardised MSs. The purpose of this work was to conceive a model, Flexible, Integrator and Lean for IMSs, according to ISO 9001 for quality; ISO 14001 for environment and OHSAS 18001 for occupational health and safety (IMS–QES), that can be adapted and progressively assimilate other MSs, such as, SA 8000/ISO 26000 for social accountability, ISO 31000 for risk management and ISO/IEC 27001 for information security management, among others. The IMS–QES model was designed in the real environment of an industrial Portuguese small and medium enterprise, that over the years has been adopting, gradually, in whole or in part, individual MSSs. The developed model is based on a preliminary investigation conducted through a questionnaire. The strategy and research methods have taken into consideration the case study. Among the main findings of the survey we highlight: the creation of added value for the business through the elimination of several organisational wastes; the integrated management of the sustainability components; the elimination of conflicts between independent MS; dialogue with the main stakeholders and commitment to their ongoing satisfaction and increased contribution to the company’s competitiveness; and greater valorisation and motivation of employees as a result of the expansion of their skill base, actions and responsibilities, with their consequent empowerment. A set of key performance indicators (KPIs) constitute the support, in a perspective of business excellence, to the follow up of the organisation’s progress towards the vision and achievement of the defined objectives in the context of each component of the IMS model. The conceived model had many phases and the one presented in this work is the last required for the integration of quality, environment, safety and others individual standardised MSs. Globally, the investigation results, by themselves, justified and prioritised the conception of an IMS–QES model, to be implemented at the company where the investigation was conducted, but also a generic model of an IMS, which may be more flexible, integrator and lean as possible, potentiating the efficiency, added value both in the present and, fundamentally, for future.

Linking customer satisfaction, quality, and strategic planning

By acknowledging and dissecting the interconnected roles of customer satisfaction, quality, and strategic planning, this paper provides an analytical framework for creating a customer-driven organization and culture. It shows how quality starts and ends with the customer. Companies that are achieving long-term continuous improvement in quality tailored to customer satisfaction possess lasting characteristics such as customer orientation, customer consciousness, and customer responsiveness. In doing so, they liberate the quality concept from the narrow product or service focus to encompass total conformance to customer requirements in spite of the existing functionalization and departmentalization of modern complex structures. In addition to these key components, a customer-driven organization demands building and nurturing a customer satisfaction culture and value system that makes quality improvement and heightened concern for customer satisfaction a permanent aspect of organizational life.

Laser-assisted deposition of thin films from photoexcited vapour phases

Laser-assisted chemical vapour deposition (LCVD) has been extensively studied in the last two decades. A vast range of applications encompass various areas such as microelectronics, micromechanics, microelectromechanics and integrated optics, and a variety of metals, semiconductors and insulators have been grown by LCVD. In this article, we review briefly the LCVD process and present two case studies of thin film deposition related to laser thermal excitation (e.g., boron carbide) and non-thermal excitation (e.g., CrO(2)) of the gas phase.

A aplicação da CIF nos programas educativos individualizados das crianças e jardim de infância

A Classificação Internacional da Funcionalidade, Crianças e Jovens (CIF-CJ), usando uma linguagem comum e universal, permite a comunicação entre os diferentes profissionais e investigadores. Sustenta-se numa abordagem biopsicossocial que pressupõe um processo interactivo da participação com os contextos de vida da criança, classificando a criança quanto à sua funcionalidade, definindo perfis de funcionalidade. A reestruturação do Programa Educativo Individual (PEI) através do decreto-lei 3/2008, passa a incluir uma terminologia da CIF-CJ, para a determinação do Perfil de Funcionalidade e Plano de Intervenção. Devido à sua pertinência e actualidade foi objectivo deste estudo fazer a análise da aplicação da CIF nos Programas Educativos Individualizados das crianças da Creche e Jardim de Infância do Cabedelo, verificando se os conteúdos dos PEI das crianças tem ligação com as componentes da CIF-CJ, se são elaborados de modo a englobarem predominantemente os constructos ligados à Actividade e Participação e ao Ambiente segundo o modelo biopsicossocial, e se os constructos identificados no Perfil de Funcionalidade surgem como alvo no Plano de Intervenção. Seleccionámos uma amostra de 15 crianças com Necessidades Educativas Especiais (NEE) com idades entre os dois e os seis anos de idade. A metodologia foi mista iniciando com um estudo qualitativo seguido de uma metodologia quantitativa. Assim procedeu-se a uma análise de conteúdo dos PEI’s, utilizando as linking rules para os relacionar com a CIF-CJ, e posteriormente efectuou-se uma análise de frequências com recurso à estatística descritiva. Os resultados indicam existir uma ligação dos conteúdos dos PEI’s com os componentes da CIF-CJ. O Perfil de Funcionalidade e Plano de Intervenção centram-se na componente Actividades e Participação sendo os Factores do Ambiente menos citados em ambos os processos. Em relação à existência de correspondência dos constructos do Perfil de Funcionalidade com o Plano de Intervenção não há uma correspondência directa em grande parte dos códigos, havendo no entanto uma correspondência na mesma área ou em áreas diferentes mas relacionáveis entre si.

Violência na escola: das políticas aos quotidianos

A existência de um alargado conjunto de situações, que designamos globalmente por violência na escola, tem dado origem, nos anos mais recentes, a diversos debates públicos e a numerosas referências nos meios de comunicação social. Foi neste contexto que se desenhou no CIES uma linha de investigação que questionou, dum ponto de vista sociológico, as concepções presentes no debate, procurando um confronto permanente entre a investigação teórica e empírica, dando particular atenção à análise e exploração das diferentes dimensões que o fenómeno assume.

The invisible factors that can make the difference. Language management and knowledge transfer in multinational sites

The knowledge-based society we live in has stressed the importance of human capital and brought talent to the top of most wanted skills, especially to companies who want to succeed in turbulent environments worldwide. In fact, streams, sequences of decisions and resource commitments characterize the day-to-day of multinational companies (MNCs). Such decision-making activities encompass major strategic moves like internationalization and new market entries or diversification and acquisitions. In most companies, these strategic decisions are extensively discussed and debated and are generally framed, formulated, and articulated in specialized language often developed by the best minds in the company. Yet the language used in such deliberations, in detailing and enacting the implementation strategy is usually taken for granted and receives little if any explicit attention (Brannen & Doz, 2012) an can still be a “forgotten factor” (Marschan et al. 1997). Literature on language management and international business refers to lack of awareness of business managers of the impact that language can have not only in communication effectiveness but especially in knowledge transfer and knowledge management in business environments. In the context of MNCs, management is, for many different reasons, more complex and demanding than that of a national company, mainly because of diversity factors inherent to internationalization, namely geographical and cultural spaces, i.e, varied mindsets. Moreover, the way of functioning, and managing language, of the MNC depends on its vision, its values and its internationalization model, i.e on in the way the MNE adapts to and controls the new markets, which can vary essentially from a more ethnocentric to a more pluricentric focus. Regardless of the internationalization model followed by the MNC, communication between different business units is essential to achieve unity in diversity and business sustainability. For the business flow and prosperity, inter-subsidiary, intra-company and company-client (customers, suppliers, governments, municipalities, etc..) communication must work in various directions and levels of the organization. If not well managed, this diversity can be a barrier to global coordination and create turbulent environments, even if a good technological support is available (Feely et al., 2002: 4). According to Marchan-Piekkari (1999) the tongue can be both (i) a barrier, (ii) a facilitator and (iii) a source of power. Moreover, the lack of preparation for the barriers of linguistic diversity can lead to various costs, including negotiations’ failure and failure on internationalization.. On the other hand, communication and language fluency is not just a message transfer procedure, but above all a knowledge transfer process, which requires extra-linguistic skills (persuasion, assertiveness …) in order to promote credibility of both parties. For this reason, MNCs need a common code to communicate and trade information inside and outside the company, which will require one or more strategies, in order to overcome possible barriers and organization distortions.

A high performance wireless fieldbus in industrial multimedia-related environment

This paper summarises the most important solutions that have emerged from the work carried out by our team within the framework of the EU (IST-1999-11316) project RFieldbus - High Performance Wireless Fieldbus in Industrial Multimedia-Related Environment. Within this project, Profibus was chosen as the fieldbus platform. Essentially, extensions to the current Profibus standard are being developed in order to provide Profibus with wireless, mobility and industrialmultimedia capabilities. In fact, providing these extensions means fulfilling strong requirements, namely to encompass the communication between wired (currently available) and wireless/mobile devices and to support real-time control traffic and multimedia traffic in the same network.

Timing analysis of an inter-cell mobility procedure for a wired/wireless PROFIBUS network

Recently, there have been a few research efforts towards extending the capabilities of fieldbus networks to encompass wireless support. In previous works we have proposed a hybrid wired/wireless PROFIBUS network solution where the interconnection between the heterogeneous communication media was accomplished through bridge-like interconnecting devices. The resulting networking architecture embraced a Multiple Logical Ring (MLR) approach, thus with multiple independent tokens, where the communication between different domains was supported by the Inter-Domain Protocol (IDP). The proposed architecture also supports mobility of stations between different wireless cells. To that hybrid wired/wireless networking architecture we have proposed a worst-case response timing analysis of the IDP, without considering inter-cell mobility (or handoff) of stations. In this paper, we advance that previous work by proposing a worst-case timing analysis of the mobility procedure.

Timing analysis of a multiple logical ring wired/wireless PROFIBUS network

Recently, there have been a few research efforts towards extending the capabilities of fieldbus networks to encompass wireless support. In previous works we have proposed a hybrid wired/wireless PROFIBUS network solution where the interconnection between the heterogeneous communication media was accomplished through bridge-like interconnecting devices. The resulting networking architecture embraced a multiple logical ring (MLR) approach, thus with multiple independent tokens, to which a specific bridging protocol extension, the inter-domain protocol (IDP), was proposed. The IDP offers compatibility with standard PROFIBUS, and includes mechanisms to support inter-cell mobility of wireless nodes. We advance that work by proposing a worst-case response timing analysis of the IDP.

Adding local priority-based dispatching mechanisms to P-NET networks: a fixed priority approach

In this paper we address the real-time capabilities of P-NET, which is a multi-master fieldbus standard based on a virtual token passing scheme. We show how P-NET’s medium access control (MAC) protocol is able to guarantee a bounded access time to message requests. We then propose a model for implementing fixed prioritybased dispatching mechanisms at each master’s application level. In this way, we diminish the impact of the first-come-first-served (FCFS) policy that P-NET uses at the data link layer. The proposed model rises several issues well known within the real-time systems community: message release jitter; pre-run-time schedulability analysis in non pre-emptive contexts; non-independence of tasks at the application level. We identify these issues in the proposed model and show how results available for priority-based task dispatching can be adapted to encompass priority-based message dispatching in P-NET networks.