Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Wave-shaped ribs were detected at prenatal ultrasound in a 20(+1) week female fetus. At birth, skeletal radiographs showed marked hypomineralization and suggested hypophosphatasia. However, elevated blood calcium and alkaline phosphatase excluded hypophosphatasia and raised the possibility of Jansen metaphyseal dysplasia. Molecular analysis of the PTH/PTHrP receptor gene (PTH1R) showed heterozygosity for a previously undescribed transversion variant (c.1373T>A), which predicts p.Ile458Lys. In vitro evaluation of wild type and mutant PTH/PTHrP receptors supported the pathogenic role of the p.Ile458Lys substitution, and confirmed the diagnosis of Jansen metaphyseal dysplasia. This disorder may present prenatally with wavy ribs and in the newborn with hypomineralization, and may therefore be confused with hypophosphatasia. The mottled metaphyseal lesions typically associated with this disease appear only in childhood.

Improving Transition Outcomes: CASE (Career And Self Awareness) Prototype: Conference Presentation

Promotional article recognizing a CASE (Career And Self Awareness) conference presentation.

Improving Transition Outcomes: Council Bluffs Youth Connections Prototype: Conference Presentation

Promotional article on a presentation at the Parent Educator Connector conference.

O contributo da contabilidade numa gestão transparente das OSFL - Caso: ADECO

Na actualidade, tem-se cada vez mais a consciência da necessidade e da importância de ter uma informação financeira credível e em tempo oportuno. A informação financeira passou a ser a base para avaliação do desempenho dos gestores, assim como para análise da situação económico-financeira das Organizações. A informação só é útil para tomada de decisão se tiverem as seguintes características qualitativas: Compreensibilidade, Relevância, Fiabilidade e Comparabilidade. No ambiente concorrencial em que as Organizações estão inseridas, a Contabilidade tem um papel fulcral como instrumento de tomada de decisão. As Organizações que têm como objectivos acções sociais, actuam nas áreas como: culturais e recreativas, solidariedade social, promoção do desenvolvimento comunitário, educacionais, de protecção ao ambiente, Saúde e da promoção da higiene, entre outros. Como essas Organizações não têm com objectivo o lucro, é necessário ter uma boa gestão e para que isso seja possível, é preciso ter-se instrumentos capazes para que isso seja possível e é neste âmbito que a Contabilidade entra como um auxílio para a gestão, como ferramenta capaz de mensurar e controlar processos, resultados e impactos nos projectos executados, a fim de que seus objectivos sociais sejam alcançados de uma forma consistente com o planeado. A sustentabilidade, a necessidade de demonstração e de aplicação dos recursos obtidos é um forte desafio que as Organizações do terceiro sector têm de ultrapassar e, neste âmbito, a Contabilidade pode constituir um meio importante para atingir esses objectivos, através da demonstração dos resultados alcançados. Nesta base, o contributo da Contabilidade na gestão das OSFL tem-se acentuado cada vez mais, demonstrando transparência na apresentação das suas contas, facilitando na captação de recursos e na fidelização dos seus parceiros e financiadores. Nowadays it has become increasingly aware of the need and importance of having credible and timely financial information. The financial information started to be the base for evaluation of the managers acting, as well as for analysis of the economicfinancial situation of the company. The information is only useful for socket of decision if they have the following qualitative characteristics: Comprehensive, Relevance, Reliable and Comparability. In the atmosphere concurrencies in that the Organizations are inserted the accounting has a crucial paper as instrument of socket of decision in the Organizations. The Organizations that have as purpose social action as for instance: cultural and recreational, social solidarity, promotion of the development community, education, of protection to the atmosphere, health and of the promotion of the hygiene, among others. As those Organizations don't have with objective the profit, it is necessary to have a good administration and for that to be possible, it is necessary to have capable instruments for that to be possible and it is in this extent that the accounting enters as an aid for the administration, as tool capable to measure and to control processes, results and impacts in the executed projects, so that their social objectives are reached in a solid way with the planed. Sustainability, the demonstration of the achieved results and the application of resources collected are strong challenges that the Organizations of the third sector have to overcome. To that extent, Accounting can contribute as an important way to reach those objectives through the demonstration of resources collected. In this base, the contribution of the Accounting has been accentuating more and more in the administration of the nonprofit organizations, demonstrating transparency in the presentation of their finance statements, facilitating the fundraising of Organizations and loyal partners and funders.

Econometrics and decision making: Effects of presentation mode

Much of empirical economics involves regression analysis. However, does thepresentation of results affect economists ability to make inferences for decision makingpurposes? In a survey, 257 academic economists were asked to make probabilisticinferences on the basis of the outputs of a regression analysis presented in a standardformat. Questions concerned the distribution of the dependent variable conditional onknown values of the independent variable. However, many respondents underestimateduncertainty by failing to take into account the standard deviation of the estimatedresiduals. The addition of graphs did not substantially improve inferences. On the otherhand, when only graphs were provided (i.e., with no statistics), respondents weresubstantially more accurate. We discuss implications for improving practice in reportingresults of regression analyses.

The so-called 'external partners' in the groups of corporations: A model of presentation in the consolidated statements

This paper studies, on the one hand, theories set out around theconsideration of the external partners in the consolidated informationand on the other hand, financial models that discuss the convenience ofthe separation or not of the different elements that form part of theliabilities of the balance sheet of the companies. A Model is proposed,the External Partners Model, which financially argues a certain presentationand processing of such and that, in our opinion, facilitates the analysisof the consolidated financial statements. This model is based on twohypotheses: (1) the economic and financial variables are not independentand (2) the value of the company depends, among other factors, of thetype of sources that constitute their capital. These two hypotheses willimply that a separation should be included in the consolidated balance sheet between equity and liabilities as they are different sources ofcapital and then its separation will give relevant information to itsusers.

Case study of intracerebral plasmacytoma as an initial presentation of multiple myeloma.

Cerebral involvement is an uncommon complication of multiple myeloma. We report on a 64-year-old man hospitalized for a partial seizure. MRI showed two intracerebral lesions, which proved to be plasmacytomas. After complete staging, we retained the diagnosis of immunoglobulin G lambda-type multiple myeloma with CNS involvement. Cytogenetic analysis of plasma cells detected a deletion in the p53 gene at 17p13.1. Despite cranial radiotherapy and systemic chemotherapy, the patient's disease progressed rapidly and he died five months after diagnosis. What makes this case unusual is that overt multiple myeloma had been absent before cerebral involvement was discovered. It confirms the extremely poor prognosis of patients with CNS myeloma even in the presence of aggressive treatment. Cytogenetic abnormalities could be a marker of chromosomal and genetic instability, conferring to multiple myeloma a more aggressive profile.

O texto literário na aula de português L2: uma proposta de didactização: Vida e morte de João Cabafume, de Gabriel Mariano

Na concepção deste trabalho, que tem como tema O texto literário na aula de Português L2 – Uma proposta de didactização: Vida e Morte de João Cabafume, de Gabriel Mariano, procurámos investigar e reflectir sobre a abordagem do texto literário no 3º ciclo do ensino secundário cabo-verdiano, especificamente na aula de Português L2, nas áreas de estudos Científica e Tecnológica e Económica e Social, do 11º ano de escolaridade, seguida da apresentação, a título de exemplo, de uma proposta de didactização do texto acima mencionado, na perspectiva da utilização do texto literário como material em que o uso estético da língua potencia a dimensão plural da significação. Para a consecução dos objectivos propostos, procurámos dar visibilidade, na perspectiva da leitura do texto literário, às orientações do programa, às potenciais práticas pedagógicas no ensino de narrativa literária, incluindo os métodos de ensino, os recursos utilizados pelos professores, a forma como os alunos encaram todo o processo de leitura do texto literário em que está envolvido. No entanto, para a concepção da proposta de didactização, procurámos cruzar propostas metodológicas de modelos de leitura e métodos de ensino do texto narrativo e de línguas defendidos por vários autores do campo da didáctica da literatura e das línguas, cujos princípios assentam em bases que valorizam a interacção entre o texto e o leitor. Partindo de um conto de Gabriel Mariano, escritor cabo-verdiano, Vida e Morte de João Cabafume, tentámos propor um roteiro de leitura adequada do texto narrativo, de forma a conduzir o aluno não só na leitura do contexto narrativo, como também na compreensão da dimensão plural da língua enquanto material estético, procurando desenvolver, fundamentalmente, as suas atitudes, os valores éticos e morais e, num âmbito complementar, as suas competências da escrita e da oralidade. Palavras-chave: Texto Literário, Leitura, Escrita, Oralidade, Português L2.

Shorter time to diagnosis and improved stage at presentation in Swiss patients with retinoblastoma treated from 1963 to 2004

Rapport de synthèse : Le rétinoblastome est la tumeur de l'oeil la plus fréquente chez l'enfant. Un diagnostic précoce est important pour sauver le globe oculaire et la survie du patient. Le but de notre étude est de déterminer l'évolution de l'intervalle diagnostique, c'est-à-dire le délai entre les premiers symptômes et la date du diagnostic officiel du rétinoblastome, sur une période de 40 ans en Suisse. Matériel et méthode : Il s'agit d'une étude rétrospective faite sur 139 patients suisses traités pour rétinoblastome durant trois différentes périodes : (1) 1963-1983 ; (2) 1984-1993 ; et (3) 1994-2004. On compare certaines caractéristiques : le sexe du patient, la latéralité de la maladie, les premiers symptômes, leurs observateurs, l'intervalle diagnostique, l'âge au diagnostic, le stade de la maladie, l'histoire familiale. Résultats : 37 patients (26.6%) ont été traités dans la première période ; 44 (31.7%) dans la période 2 et 58 (41.7%) dans la période 3. L'intervalle diagnostique diminue de façon significative de 6.97 mois dans la période 1 à 3.58 dans la période 2 à 2.25 dans la période 3 pour le total des malades. Ceci reste significatif pour les rétinoblastomes unilatéraux. De plus, dans ce même groupe, on observe une diminution significative des stades avancés de la maladie, groupe E selon Murphree (61.5% dans la période 1 ; 46.7% dans la période 2 et 22.2 % dans la période 3). Lorsque la maladie est bilatérale, les mêmes observations se font de façon un peu moins marquée. Il n'y a aucun patient diagnostiqué au stade E de la maladie en présence d'une anamnèse familiale positive. Leucocorie (48.2%) et strabisme (20.1 %) sont les symptômes les plus fréquents durant les 3 périodes. Les seuls facteurs qui influencent significativement le risque d'avoir un stade E de la maladie sont la durée de l'intervalle diagnostic et la période de diagnostic. Conclusion : On constate un progrès dans le diagnostic du rétinoblastome en Suisse, surtout lors de maladie unilatérale. De même, des améliorations sont notées dans la maladie bilatérale mais de façon non significative. Il est donc important de mieux enseigner aux médecins à reconnaître les symptômes oculaires de la maladie et à référer les patients plus tôt aux spécialistes. Abstract : OBECTIVES : Retinoblastoma is the most frequent intraocular malignancy in children. Early diagnosis is essential for globe salvage and patient survival. The aim of our study was to determine how time to diagnosis of retinoblastoma has evolved over a 40-year period in Switzerland. METHOD AND PATIENTS : A retrospective study of 139 Swiss patients with retinoblastoma was performed comparing 3 periods: (1) 1963-1983; (2) 1984-1993; and (3) 1994-2004. Factors taken into account were gender, laterality of retínoblastoma, age at first symptoms, type and first observer of symptoms, time to diagnosis, age at diagnosis, disease stage, and family history. RESULTS : Thirty-seven patients (26.6%) were treated in period 1, 44 (31.7%) in period 2, and S8 (41.7%) in period 3.Overall, the diagnostic interval decreased in a significant way from 6.97 months in period 1 to 3.58 in period 2 and to 2.25 in period 3. When looking separately at unilateral and bilateral disease, the decrease oí the diagnostic interval remained statistically significant in unilateral retinoblastoma; there was also a significant reduction in the number of patients with advanced group E disease (Murphree classification) (61.5% in period 1, 46.7% in period 2, 22.2% in period 3). In bilateral disease, the same observations were made to a lesser extent. However, there were no cases with group E disease in 10 patients with positive family history. Leukornria (48.2%) and strabismus (20.1 %) were the 2 most frequent symptoms throughout the 3 periods. The only factors that statistically influenced the chances of having a diagnosis of group E disease were the diagnostic interval and period of diagnosis. Conclusion : Progress has been made in the diagnosis of retinoblastoma in Switzerland, notably in unilateral disease. Improvement to a lesser extent has also been observed in bilateral cases but without statistical significance. Greater effort is needed to teach physians-in-training to recognize the importance of ocular symptoms and refer patients earlier.

The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

Infectious and inflammatory diseases have repeatedly shown strong genetic associations within the major histocompatibility complex (MHC); however, the basis for these associations remains elusive. To define host genetic effects on the outcome of a chronic viral infection, we performed genome-wide association analysis in a multiethnic cohort of HIV-1 controllers and progressors, and we analyzed the effects of individual amino acids within the classical human leukocyte antigen (HLA) proteins. We identified >300 genome-wide significant single-nucleotide polymorphisms (SNPs) within the MHC and none elsewhere. Specific amino acids in the HLA-B peptide binding groove, as well as an independent HLA-C effect, explain the SNP associations and reconcile both protective and risk HLA alleles. These results implicate the nature of the HLA-viral peptide interaction as the major factor modulating durable control of HIV infection.

Expression and presentation of endogenous mouse mammary tumor virus superantigens by thymic and splenic dendritic cells and B cells.

Tolerance against superantigens (SAgs) encoded by endogenous mouse mammary tumor virus (Mtv) loci involves the intrathymic deletion of SAg-reactive T cells expressing a particular TCR V beta-chain, presumably upon presentation of the SAg by specialized APC. However, although the role of dendritic cells (DC) in the induction of tolerance against conventional Ags has been demonstrated, little is known about the role played by DC in tolerance induction against Mtv SAgs. Moreover, there is conflicting evidence concerning the capacity of DC to express and present Mtv SAgs. In this report we have analyzed the expression of Mtv SAgs in highly purified thymic and splenic DC and B cells by reverse transcriptase-PCR, using primers amplifying Mtv SAg-specific spliced mRNAs. DC express Mtv SAgs at levels comparable to B cells, but display a differential expression pattern of the various Mtv loci compared with B cells. Furthermore, our results show that DC are able to induce the deletion of SAg-reactive thymocytes in an in vitro assay, indicating that Mtv SAgs are functionally expressed on the DC surface. Collectively, our data are consistent with the hypothesis that DC play a role in the induction of intrathymic tolerance to Mtv SAgs.