Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

BACKGROUND: Multiple epiphyseal dysplasia (MED) is one of the more common generalised skeletal dysplasias. Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms. CASE PRESENTATION: We report on a 27-year-old male patient suffering from clinical symptoms of autosomal recessive MED with habitual dislocation of a multilayered patella on both sides, on the surgical treatment and on short-term clinical outcome. Clinical findings were: bilateral hip and knee pain, instability of femorotibial and patellofemoral joints with habitual patella dislocation on both sides, contractures of hip, elbow and second metacarpophalangeal joints. Main radiographic findings were: bilateral dislocated multilayered patella, dysplastic medial tibial plateaus, deformity of both femoral heads and osteoarthritis of the hip joints, and deformity of both radial heads. In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S) was found at the homozygote state. Carrier status was confirmed in the DNA of the patient's parents. The mutation could be considered to be the reason for the patient's disease. Surgical treatment of habitual patella dislocation with medialisation of the tibial tuberosity led to an excellent clinical outcome. CONCLUSIONS: The knowledge of different phenotypes of skeletal dysplasias helps to select genes for genetic analysis. Compared to other DTDST mutations, this is a rather mild phenotype. Molecular diagnosis is important for genetic counselling and for an accurate prognosis. Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

Les parlementaires suisses entre démocratisation et professionnalisation (1910-2010). Biographie collective des élus fédéraux et réformes du Parlement helvétique

Notre travail de thèse vise à analyser, d'une part, les principales réformes du Parlement fédéral adoptées au cours du 20e siècle et, d'autre part, l'évolution du profil sociographique pour six cohortes d'élus fédéraux (1910, 1937, 1957, 1980, 2000 et 2010), sous l'angle de sa démocratisation et de sa professionnalisation. La thèse comprend trois axes de recherche principaux. Premièrement, nous nous penchons sur les deux réformes institutionnelles censées favoriser la démocratisation du recrutement parlementaire, à savoir l'adoption de la proportionnelle pour l'élection du Conseil national en 1918 et l'introduction du suffrage féminin à l'échelon fédéral en 1971. Nous abordons également les réformes du Parlement visant, depuis les années 1970, à sa revalorisation et à sa professionnalisation. Le deuxième axe porte sur la réalisation d'un portrait collectif des élus fédéraux pour la période 1910-1980, dans le but de vérifier l'impact des réformes des règles électorales (proportionnelle et suffrage féminin) sur le profil des députés et sénateurs. Enfin, dans le troisième axe, nous abordons les transformations du profil socio-professionnel des parlementaires pendant la période plus récente (1980-2010), en lien avec la professionnalisation accrue de l'Assemblée fédérale et les changements des rapports de force partisans. Nos résultats permettent de mettre en évidence plusieurs éléments de continuité (prédominance de la catégories des indépendants, notamment des avocats, des chefs d'entreprise et des agriculteurs, et sous-représentation des salariés du secteur public ; fort ancrage local), ainsi que certains facteurs de rupture (présence accrue des femmes, moindre importance de la carrière militaire). D'autres changements dans le profil sont liés au processus récent de professionnalisation, contesté et inachevé, qui a favorisé néanmoins l'émergence de nouveaux profils sociologiques d'élus, en termes de formation, de profession (apparition du groupe des parlementaires professionnels) et de cumul des mandats économiques et politiques, avec cependant de fortes variations entre les partis et entre les deux Chambres. - Our PhD thesis aims at analysing, on the one hand, the main reforms of the Federal Parliament adopted during the 20th century and, on the other hand, the evolution of sociographical profile for six cohorts of Swiss MPs (1910, 1937, 1957, 1980, 2000 and 2010) in terms of their democratization and professionalization. Our research is composed of three main parts. Firstly, we analyse two institutional reforms which intended to promote the democratization of parliamentary recruitment, namely the adoption of proportional representation (PR) in 1918 for the election of the National Council and the introduction of women's suffrage at the federal level in 1971. We also deal with parliamentary reforms that, since the 1970s, have aimed at reasserting the political status of the Federal Assembly and at professionalizing its members. Secondly, we carry out a collective biography of Swiss MPs during the period 1910-1980, in order to verify the impact of electoral reforms (PR and women's suffrage) on the profiles of deputies and senators. Finally, we discuss the transformation of the MPs' socio-_professional profiles during the recent period (1980-2010) in connection with the increased professionalization of the Federal Assembly and the changes of the power relations within the Parliament. Our results allow us to highlight several elements of continuity (the predominance of self-employed persons, especially lawyers, business managers and farmers, and the underrepresentation of public employees; stronger background in local politics), as well as some factors of discontinuity (increased presence of women and lesser importance of the military career). Other changes of the parliamentarians' profile are related to the recent process of professionalization. Although contested and unfinished, it has promoted new sociological profiles in terms of educational background, profession (growth of the professional parliamentarians) and number of political and economic mandates held simultaneously, however with important variations between parties and between Lower and Upper House.

Edith Magalhaes Fraenkel: The greatest figure of Brazilian Nursing

The present study aimed to describe and analyze the career of Edith Magalhães Fraenkel and her important legacy to Brazilian nursing. The methodology chosen was a documentary analysis of her areas of participation based on documents of the Historical Cultural Center of Iberian-American School of Nursing of the University of São Paulo (Universidade de São Paulo, USP) and in the Rectory of the same University. The following thematic topics were categorized: preparation for leadership, moving to São Paulo, creation of the School of Nursing of USP, event organization, and unique developments at the end of her career. We conclude that Mrs. Edith Fraenkel is the most important figure of Brazilian nursing, thanks to her immeasurable work as a leader of the profession, nationally and internationally.

O ensino e a prática da contabilidade, orientado para o desenvolvimento de competências científicas, tecnológicas e relacionais

A dissertação que ora apresentamos visa a obtenção do grau de mestre no MBA - Gestão de Empresas, pelo ISCTE Business School, Departamento de Gestão. Intitulado o ensino e prática da Contabilidade, orientado para o desenvolvimento de competências científicas, tecnológicas e relacionais, este estudo foi desenvolvido para tentarmos perceber até que ponto o ensino da contabilidade, no instituto eleito para o efeito, corresponde às expectativas da profissão, atendendo às competências que o mercado, inserido num mundo global em constantes mutações, determina como fundamentais para o sucesso da carreira contabilística. Com novas necessidades em competências, na prática contabilística, resultantes da utilização das TICs, presentes em qualquer ramo da esfera humana, tentámos perceber se o currículo do Curso de Contabilidade, do instituto, está projectado para conferir, aos diplomados, competências do saber-saber, saber-fazer, e saber-ser, em conformidade com tais necessidades ou, pelo contrário, baseia-se numa perspectiva tradicional assente numa pedagogia por objectivos, encontrando-se desactualizado. Tratou-se de um estudo de caso, numa investigação qualitativa holística, que permitiu desenvolver compreensões a partir das evidências reunidas, das representações dos sujeitos sobre quem recaem os resultados da investigação, que estabelecem uma relação indirecta com os mesmos resultados. Dos resultados obtidos, percebemos que o currículo do Curso de Contabilidade não se adequa a um currículo baseado em competências, sendo inadequado à realidade contabilística actual, local e global. As conclusões chegadas permitem-nos defender uma revisão curricular do curso para adequá-lo às competências necessárias à garantia duma profissão de contabilista de sucesso. Como contributo, propomos um plano de estudos alternativo. The present dissertation aims at obtaining the master degree in MBA - Management, ISCTE Business School, Department of Management. Titled the teaching and practice of accounting, aimed at developing scientific, technology and relations competencies, this study was designed trying to realize the extent to which accounting education, at the institute elected for that, has met the expectations of the profession given the skills that the market, housed in a global world in constant change, establishes as fundamental to successful accounting career. With new skills needs in accounting practice, resulting from the use of ICT, present in any branch of the human sphere, we tried to see if the accounting course curriculum, of the institute, is designed to give graduates the skills of knowing how to know, knowing how to do and how to be or, conversely, is based on a traditional perspective based on a pedagogy by objectives, and is outdated. It was a case study, a holistic qualitative research, which allowed us to develop insights from the evidence gathered, the representations of the subjects on whom fall the results of research, establishing an indirect link with the same results. From our results, we find that the accounting course curriculum is not appropriate for a curriculum based on skills, and unsuited to current accounting practice, locally and globally. The conclusions reached allow us to defend a curriculum review of the course to suit the skills necessary to ensure a successful accountancy profession. As a contribution, we propose an alternative curriculum.

TOPSpro Data Dictionary, July 1, 2005–June 30, 2006

The passage of the Workforce Investment Act (WIA) of 1998 [Public Law 105-220] by the 105th Congress has ushered in a new era of collaboration, coordination, cooperation and accountability. The overall goal of the Act is “to increase the employability, retention, and earnings of participants, and increase occupational skill attainment by participants, and, as a result improve the quality of the workforce, reduce welfare dependency, and enhance the productivity and competitiveness of the Nation.” The key principles inculcated in the Act are: • Streamlining services; • Empowering individuals; • Universal access; • Increased accountability; • New roles for local boards; • State and local flexibility; • Improved youth programs. The purpose of Title II, The Adult Education and Family Literacy Act (AEFLA), of the Workforce Investment Act of 1998 is to create a partnership among the federal government, states, and localities to provide, on a voluntary basis, adult education and literacy services in order to: • Assist adults become literate and obtain the knowledge and skills necessary for employment and self-sufficiency; • Assist adults who are parents obtain the educational skills necessary to become full partners in the educational development of their children; • Assist adults in the completion of a secondary school education. Adult education is an important part of the workforce investment system. Title II restructures and improves programs previously authorized by the Adult Education Act. AEFLA focuses on strengthening program quality by requiring States to give priority in awarding funds to local programs that are based on a solid foundation of research, address the diverse needs of adult learners, and utilize other effective practices and strategies. To promote continuous program involvement and to ensure optimal return on the Federal investment, AEFLA also establishes a State performance accountability system. Under this system, the Secretary and each State must reach agreement on annual levels of performance for a number of “core indicators” specified in the law: • Demonstrated improvements in literacy skill levels in reading, writing, and speaking the English language, numeracy, problem solving, English language acquisition, and other literacy skills. • Placement in, retention in, or completion of postsecondary education, training, unsubsidized employment or career advancement. • Receipt of a secondary school diploma or its recognized equivalent. Iowa’s community college based adult basic education program has implemented a series of proactive strategies in order to effectively and systematically meet the challenges posed by WIA. The Iowa TOPSpro Data Dictionary is a direct result of Iowa’s pro-active efforts in this educational arena.

Ricercando tra i Registri

My final project is to show the development of the language and the style of the double bass and its change of role through different influences. To accomplish this I decided to make an analytic overview of those double bass players that started to use a different and not traditional approach on the instrument. Later, I focused on the bassists and composers who influenced me the most in the latest period of my study career by partly analysing their playing and their composition. Another part of my work was concerned with creating a personal connection with those musicians, who I consider idols of mine. I did this through interviews, to try to understand their creative process on the instrument and in the composition and to deeply comprehend their personal point of view about the evolution of the double bass. At the same time my interest for the compositional aspect was growing together with the necessity to discover my own voice as a musician. Subsequently I made an analysis of my compositions to underline and to get conscious about my personal influences and evolution. Concluding from this, I have created a complete overview and deepened my understanding for the modern approach in Jazz double bass.

The Genesis and Effect of French Anti-Doping Policies in Cycling

This paper focuses on the transformation of French public policy on doping and its effects on the life of cycling professionals. We first focus on the emergence and the evolution of French public policies against doping in cycling. Then the article attempts to qualitatively observe the effects of policies on cyclists. The objective is to understand how the cycling culture is evolving. This article is based on 39 interviews with new and seasoned professionals, as well as ethnographic observations over a dozen years .

First impressions matter: Signalling as a source of policy dynamics

We first establish that policymakers on the Bank of England's Monetary PolicyCommittee choose lower interest rates with experience. We then reject increasingconfidence in private information or learning about the structure of the macroeconomy as explanations for this shift. Instead, a model in which voters signal theirhawkishness to observers better fits the data. The motivation for signalling is consistent with wanting to control inflation expectations, but not career concerns orpleasing colleagues. There is also no evidence of capture by industry. The papersuggests that policy-motivated reputation building may be important for explainingdynamics in experts' policy choices.

What do outside experts bring to a committee? Evidence from the Bank of England

We test whether outside experts have information not available to insiders by usingthe voting record of the Bank of England's Monetary Policy Committee. Memberswith more private information should vote more often against conventional wisdom,which we measure as the average belief of market economists about future interest rates. We find evidence that external members indeed have information notavailable to internals, but also use a quasi-natural experiment to show they mayexaggerate their expertise to obtain reappointment. This implies that an optimalcommittee, even outside monetary policy, should potentially include outsiders, butneeds to manage career concerns.

Improving Transition Outcomes: Community Demonstration Prototypes

Information on the Council Bluffs Youth Connections, Henry County Transition Partners, and CASE (Career And Self Awareness) community demonstration prototypes.

Leadership in cardiac surgery.

Despite the efficacy of cardiac surgery, less invasive interventions with more uncertain long-term outcomes are increasingly challenging surgery as first-line treatment for several congenital, degenerative and ischemic cardiac diseases. The specialty must evolve if it is to ensure its future relevance. More importantly, it must evolve to ensure that future patients have access to treatments with proven long-term effectiveness. This cannot be achieved without dynamic leadership; however, our contention is that this is not enough. The demands of a modern surgical career and the importance of the task at hand are such that the serendipitous emergence of traditional charismatic leadership cannot be relied upon to deliver necessary change. We advocate systematic analysis and strategic leadership at a local, national and international level in four key areas: Clinical Care, Research, Education and Training, and Stakeholder Engagement. While we anticipate that exceptional individuals will continue to shape the future of our specialty, the creation of robust structures to deliver collective leadership in these key areas is of paramount importance.

Successful Interviewing Guide, September 2007

Most employers want to treat job applicants fairly and without prejudice. All employers want to hire the most qualified person for the job. Both goals can be met when the employer is versed in effective techniques for interviewing job applicants. In regard to fairness, it’s easy to recite the reasons why fair and effective interviewing can ometimes seem elusive. Laws and regulations, and their interpretation by courts and egulators, are constantly changing. A quick review of the “Do's and Don’ts” of equal employment opportunity interviewing appears at the end of this booklet, and is titled, “Summary Guide to Pre-Employment Inquiries.” Consistent with the guide’s placement at the close of this booklet, it is most effectively used after reading the more detailed material preceding it. The thought provoking questions on pages 4 and 5 examine the applicant’s qualifications, work attitudes, and career plans. They will help the interviewer discover the most qualified person for the job. The “Successful Interviewing Guide” was developed by Iowa Workforce Development based on information provided by the Iowa Civil Rights Commission and the U.S. Equal Employment Opportunity Commission, the agencies charged with enforcing discrimination laws.

Formação profissional e empregabilidade: O caso dos diplomados da escola de formação profissional da Cabnave em São Vicente – Cabo Verde

Se houve um tempo em que eram as empresas as mais preocupadas em dotar os seus empregados com um determinado leque de competências técnicas, pela via da Formação Profissional, para se tornarem cada vez mais competitivas, hoje torna-se crucial para qualquer país poder determinar o grau de empregabilidade dos diversos cursos de formação profissional realizados pela sua população activa, de modo a optimizar a inserção dos seus cidadãos no mercado de trabalho. A presente investigação visa analisar a empregabilidade a partir de um caso nacional, em que uma escola de formação profissional, inserida numa empresa – a Cabnave – vem desenvolvendo um modelo de formação, que para além de estar directamente relacionado com a sua própria actividade, encontra-se ligado a vários sectores da actividade económica de Cabo Verde, particularmente ao da indústria Mecânica e Metalomecânica. O estudo contém dois principais momentos. Um primeiro, no qual se procedeu à contextualização e fundamentação do tema, com base em bibliografia nacional e internacional, e enfoque nos seguintes assuntos: o sistema de ensino em Cabo Verde, mais concretamente a via do ensino secundário técnico; a formação profissional; e o mercado de trabalho em Cabo Verde. Num segundo momento desenvolveu-se um Caso de Estudo, para se determinar o grau de empregabilidade dos diplomados da Escola de Formação Profissional da Cabnave, que seguiram uma carreira em áreas profissionais diferentes do curso realizado, recorrendo-se à aplicação de um questionário a uma amostra final de 80 inquiridos, e à interpretação dos resultados, através dos métodos de análise estatística Descritiva e Correlacional. Das conclusões resultantes da análise das respostas obtidas, chama-se a atenção para o facto de a maioria dos diplomados partilharem de uma opinião positiva relativamente à empregabilidade dos cursos que frequentaram, independentemente de os mesmos terem ou não conduzido a uma profissão directamente ligada ao sector da Mecânica e MetalomecânicaIf at one point companies used to be the ones that were the most concerned with providing specific technical skills to their employees, through professional education, as to become more competitive, it is today highly important for every country to determine the level of employability of the numerous professional education programs pursued by its active population, so as to increase citizens’ chances to enter the labor market. The present research aims to study the concept of employability, with focus on a national case, a school of professional education which integrates the company Cabnave, and has been developing an educational model that, in addition to responding to the company’s own needs, is also connected to Cape Verde’s various economic sectors, notably the Mechanics and Metalworking industry. The study consists of two main parts. A first one where, based on national and international bibliography, the theme is contextualized, with closest attention to the following subjects: the Cape Verdean education system, especially vocational education in secondary schools; professional education; and the labor market in Cape Verde. In the second part, a Case Study is conducted, in order to determine the level of employability of those who were trained by Cabnave’s School of Professional Education, but have pursued a career in a different professional field. Therefore, a questionnaire was submitted to a sample of 80 respondents, and the correspondent data was analyzed and interpreted, with the use of Descriptive Statistics and Correlation Analysis. One of the conclusions deriving from the survey results is that most of the School’s trained graduates have a positive view of the employability of the programs they have pursued, independently of whether they continued to work in the Mechanics and Metalworking industry

Teaching, research and service: Experience and opinions of accounting Spanish academics

Research, teaching and service are the main activities carried out in almost all European universities. Previous research, which has been mainlycentred in North-American universities, has found solid results indicatingthat research and teaching are not equally valued when deciding on facultypromotion. This conclusion creates a potential conflict for accountingacademics on how to distribute working time in order to accomplish personalcareer objectives. This paper presents the results of a survey realisedin two European countries: Spain and the United Kingdom, which intendedto explore the opinions and personal experience of accounting academicsworking in these countries. Specifically, we focus on the following issues:(i) The impact of teaching and service on time available for research;(ii) The integration of teaching and research; (iii) The perceived valueof teaching and research for career success and (iv) The interaction betweenprofessional accounting and accounting research. The results show thatboth in Spain and in the United Kingdom there is a conflict between teachingand research, which has its origin in the importance attached to researchactivities on promotion decisions. It also seems evident that so far, theconflict is being solved in favour of research in prejudice of teaching.

The benefits of limited feedback in organizations

In most firms, managers periodically assess workers' performance. Evidence suggeststhat managers withhold information during these reviews, and some observersargue that this necessarily reduces surplus. This paper assesses the validity of thisargument when workers have career concerns. Disclosure has two effects: it exposesthe worker to uncertainty about future effort levels, but allows him to use current effortto influence his employer's beliefs about future effort. The surplus-maximizingdisclosure policy reveals output realizations in the center of the distribution, butnot in the tails. Thus, it is efficient for firms to reveal some but not all performanceinformation.