Localization of a novel melanoma susceptibility locus to 1p22

Over the past 20 years, the incidence of cutaneous malignant melanoma (CMM) has increased dramatically worldwide. A positive family history of the disease is among the most established risk factors for CMM; it is estimated that 10% of CMM cases result from an inherited predisposition. Although mutations in two genes, CDKN2A and CDK4, have been shown to confer an increased risk of CMM, they account for only 20%-25% of families with multiple cases of CMM. Therefore, to localize additional loci involved in melanoma susceptibility, we have performed a genomewide scan for linkage in 49 Australian pedigrees containing at least three CMM cases, in which CDKN2A and CDK4 involvement has been excluded. The highest two-point parametric LOD score (1.82; recombination fraction [theta] 0.2) was obtained at D1S2726, which maps to the short arm of chromosome 1 (1p22). A parametric LOD score of 4.65 (theta = 0) and a nonparametric LOD score of 4.19 were found at D1S2779 in nine families selected for early age at onset. Additional typing yielded seven adjacent markers with LOD scores 13 in this subset, with the highest parametric LOD score, 4.95 (theta = 0) ( nonparametric LOD score 5.37), at D1S2776. Analysis of 33 additional multiplex families with CMM from several continents provided further evidence for linkage to the 1p22 region, again strongest in families with the earliest mean age at diagnosis. A nonparametric ordered sequential analysis was used, based on the average age at diagnosis in each family. The highest LOD score, 6.43, was obtained at D1S2779 and occurred when the 15 families with the earliest ages at onset were included. These data provide significant evidence of a novel susceptibility gene for CMM located within chromosome band 1p22.

eMelanoBase: An online locus-specific variant database for familial melanoma

A proportion of melanoma,prone individuals in both familial and non,familial contexts has been shown to carry inactivating mutations in either CDKN2A or, rarely, CDK4. CDKN2A is a complex locus that encodes two unrelated proteins from alternately spliced transcripts that are read in different frames. The alpha transcript (exons 1a, 2, and 3) produces the p16INK4A cyclin-dependent kinase inhibitor, while the beta transcript (exons 1beta and 2) is translated as p14ARF, a stabilizing factor of p53 levels through binding to MDM2. Mutations in exon 2 can impair both polypeptides and insertions and deletions in exons 1alpha, 1beta, and 2, which can theoretically generate p16INK4A,p14ARF fusion proteins. No online database currently takes into account all the consequences of these genotypes, a situation compounded by some problematic previous annotations of CDKN2A related sequences and descriptions of their mutations. As an initiative of the international Melanoma Genetics Consortium, we have therefore established a database of germline variants observed in all loci implicated in familial melanoma susceptibility. Such a comprehensive, publicly accessible database is an essential foundation for research on melanoma susceptibility and its clinical application. Our database serves two types of data as defined by HUGO. The core dataset includes the nucleotide variants on the genomic and transcript levels, amino acid variants, and citation. The ancillary dataset includes keyword description of events at the transcription and translation levels and epidemiological data. The application that handles users' queries was designed in the model,view. controller architecture and was implemented in Java. The object-relational database schema was deduced using functional dependency analysis. We hereby present our first functional prototype of eMelanoBase. The service is accessible via the URL www.wmi.usyd.e, du.au:8080/melanoma.html.

Características da localização no processo de internacionalização de empresas

O artigo tem como objetivo analisar a influência das características da localização ao longo do processo de internacionalização. O conceito-chave localização é comparado transversalmente para fundamentar a análise empírica dos casos, com base em cinco modelos de internacionalização. A pesquisa caracteriza-se por sua abordagem longitudinal e por procedimentos metodológicos embasados na teoria adaptativa. A análise dos dados foi realizada em duas etapas: descritiva e pelo método de comparação constante, com o auxílio do software ATLAS/TI. À luz das propriedades do conceito-chave, emergiram quatro manifestações significativas e de predominância distinta ao longo do tempo: modismo, vantagens (transacionais e comparativas) e desvantagens locacionais. As vantagens comparativas foram determinantes no início e impulsionaram o modismo na região. As vantagens transacionais encontram-se presentes em fases recentes, devido à abertura de subsidiárias no exterior, enquanto as desvantagens locacionais se destacam em decorrência de fenômenos do acaso não previstos.

Écriture, stéréotypes et créativité

Notre objectif consiste à interroger les effets de dispositifs d’enseignement apprentissage de l’écriture narrative, en prenant pour analyseur l’usage du stéréotype par des élèves de la fin de l’école élémentaire. Le stéréotype, considéré comme le lieu commun de l’expression (Dufays & Kervin, 2010) est potentiellement générateur de ressources (Marin & Crinon, 2014, à paraître) par les contraintes mêmes qu’il induit (Plane, 2006). En prise sur l’appréhension des critères de genre, la reconnaissance des stéréotypes renvoie à une forme particulièrement discriminante de capital symbolique (Tardy et Swales, 2008) dont il convient d’envisager les effets sur la régulation des inégalités entre élèves (Rochex & Crinon, 2011). Nous présentons en complémentarité deux recherches, dans lesquelles les élèves bénéficient de ressources de nature différente : l’aide apportée y assumant pour la première le statut d’outil technique (Crinon, Legros & Marin, 2002-2003), alors qu’elle relève pour la seconde d’un instrument psychologique (Marin, 2011). Les résultats de ces recherches montrent comment la focalisation sur les critères de genre constitue une ressource utile aux élèves, la seconde mettant en exergue le rôle des tuteurs dans la critique des textes de leurs pairs et son effet récursif sur la conscientisation des invariants génériques du texte de fiction.

Análise e intervenção em problemáticas específicas de leitura

Dissertação apresentada para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Ciências da Educação

Mudanças cognitivas e conativas na adolescência

O estudo de adolescentes tem sido mais raro na literatura devido à dificuldade de reunir amostras destas idades, o mesmo não acontecendo com crianças das primeiras fases do Ensino Básico. Por fim, o autor nota que os temas mais tratados dizem respeito ao estudo dos processos gerais de desenvolvimento e à instrução (1/2 dos 192 artigos considerados para a psicologia francesa nesta área do conhecimento para o período 89-92). Não iremos faltar aqui às tendências gerais: a nossa comunicação tratará também dos processo gerais de desenvolvimento, na adolescência e das suas conseqüências para a psicologia da educação. Quanto às direcções em que a investigação teria que se desenvolver, o mesmo autor, em 1994, propunha: a) a articulação dos aspectos cognitivo e conativo do desenvolvimento; b) os estudos sobre os mecanismos de transição^. O nosso propósito, nesta comunicação, é de dar conta das nossas próprias investigações com adolescentes portugueses, considerando este duplo ponto de vista.

Educação (Intercultural) para a Cidadania na Aula de Línguas Estrangeiras

Relatório de Estágio apresentado para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Ensino do Inglês e de Línguas Estrangeiras no 3º ciclo do Ensino Básico e no Secundário

Groupes diagnostiques utilisés sur SIMULIT 14

Un premier exercice avait proposé un regroupement des diagnostics pour la planification des lits. Ce regroupement avait été établi empiriquement sur une base de données provenant des hôpitaux de zone vaudois (1983-1984). Lorsqu'il s'est agi d'appliquer cette grille au Centre Hospitalier Universitaire Vaudois (CHUV), il est rapidement apparu que la structure de la clientèle d'un tel hôpital rendait indispensable le remaniement de la grille descriptive. C'est l'objet du présent cahier... [Auteurs]

Etendue des prestations de l'assurance-maladie sociale : le catalogue des prestations est- il suffisant pour que tous accèdent à des soins de qualité ?

Le projet "prestations de l'assurance-maladie sociale" est l'un des projets partiels élaborés par l'Office fédéral des assurances sociales (OFAS) dans le cadre de l'analyse des effets de la LAMal. Deux approches complémentaires sont adoptées pour répondre à la question du caractère suffisant du "catalogue" suisse des prestations à charge de l'assurance-maladie sociale: d'une part, la comparaison des "catalogues" des prestations remboursées en Suisse et à l'étranger et, d'autre part, l'examen de la couverture par le "catalogue" des prestations de problèmes de santé utilisés comme traceurs. [Table des matières] 1.1. Contexte. 1.2. Définition et limites du mandat. 1.3. Le "catalogue" des prestations : composition actuelle, participation d'autres assurances sociales et des pouvoirs publics. 1.4. Approches méthodologiques : comparaison internationale, étude de conditions-traceurs. 2. Analyse par comparaison internationale. 2.1. Recherche de documentation et collaborations. 2.2. Résultats : Suisse, France, Allemagne, Israël, Pays-Bas, Luxembourg, comparaison internationale des prestations générales, par catégorie, et des prestations spéciales. 3. Analyse par conditions traceurs. 3.1. Stratégie de la recherche documentaire. 3.2. Critères de choix des documents. 3.3. Variations méthodologiques et particularités. 3.4. Résultats : Accident vasculaire cérébral (ischémique), fracture de hanche, obésité, leucémie aigüe (LA), grossesse normale et nouveau-né en bonne santé. 3.5. Discussion.

Measuring the diffusion of palliative care in long-term care facilities - a death census

ABSTRACT: BACKGROUND: The dissemination of palliative care for patients presenting complex chronic diseases at various stages has become an important matter of public health. A death census in Swiss long-term care facilities (LTC) was set up with the aim of monitoring the frequency of selected indicators of palliative care. METHODS: The survey covered 150 LTC facilities (105 nursing homes and 45 home health services), each of which was asked to complete a questionnaire for every non-accidental death over a period of six months. The frequency of 4 selected indicators of palliative care (resort to a specialized palliative care service, the administration of opiates, use of any pain measurement scale or other symptom measurement scale) was monitored in respect of the stages of care and analysed based on gender, age, medical condition and place of residence. RESULTS: Overall, 1200 deaths were reported, 29.1% of which were related to cancer. The frequencies of each indicator varied according to the type of LTC, mostly regarding the administration of opiate. It appeared that the access to palliative care remained associated with cancer, terminal care and partly with age, whereas gender and the presence of mental disorders had no effect on the indicators. In addition, the use of drugs was much more frequent than the other indicators. CONCLUSION: The profile of patients with access to palliative care must become more diversified. Among other recommendations, equal access to opiates in nursing homes and in home health services, palliative care at an earlier stage and the systematic use of symptom management scales when resorting to opiates have to become of prime concern.

La médecine de famille en Suisse à l'horizon 2030: quelle place pour la délégation des tâches médicales. [Family practitioners in Switzerland by 2030: which roles for medical task delegation?]

Due to population aging, by 2030 Switzerland may face a demand of 24 million family practitioner visits, a growth of 13 percent from the 2005 level. This result is based on the assumption that the per capita demand for doctor visits remains what was observed in 2005 by age groups and sex. During the same period, the total number of practitioners may decrease by 14 percent whereas the female proportion of such practitioners may double. These changes may cause a 33 percent decrease in the supply of physician visits to reach only 14 millions. The comparison of the demand and supply of family doctor visits reveals that by 2030, 10 million visits may be unmet which represents 40 percent of the demand. On the supply side, a full scale implementation of task delegation may partially reduce that gap (minus 2 millions). On the demand side, improved health status may bring in a larger decrease in the needs for visits (minus 4 million).

Promotion de l'activité physique chez les aînés: enjeux et stratégies spécifiques. [Promotion of exercise in older people: issues and strategies].

Regular physical activity is among the most effective interventions to prevent or delay functional decline and disability, even in older persons. Despite relatively strong scientific evidence supporting these benefits, the majority of older persons remain mostly sedentary. For these persons, concerns about injury or fear of negative consequences on their chronic diseases are among the most powerful barriers to participation in regular physical activity. Promotion of physical activity among older persons has therefore become one of the five main themes of the health promotion project "Via", a project that aims at promoting good practice in prevention and health promotion directed toward older adults in Switzerland. This paper summarizes the main recommendations issued from this national project supported by the Swiss Health Promotion Foundation.