Diagnostics robustes à des délais individuels en utilisant les estimateurs robustes RA-ARX

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Diagnostics robustes à des délais individuels en utilisant les estimateurs robustes RA-ARX

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Work disability remains a major problem in rheumatoid arthritis in the 2000s: data from 32 countries in the QUEST-RA Study

Introduction: Work disability is a major consequence of rheumatoid arthritis (RA), associated not only with traditional disease activity variables, but also more significantly with demographic, functional, occupational, and societal variables. Recent reports suggest that the use of biologic agents offers potential for reduced work disability rates, but the conclusions are based on surrogate disease activity measures derived from studies primarily from Western countries. Methods: The Quantitative Standard Monitoring of Patients with RA (QUEST-RA) multinational database of 8,039 patients in 86 sites in 32 countries, 16 with high gross domestic product (GDP) (>24K US dollars (USD) per capita) and 16 low-GDP countries (<11K USD), was analyzed for work and disability status at onset and over the course of RA and clinical status of patients who continued working or had stopped working in high-GDP versus low-GDP countries according to all RA Core Data Set measures. Associations of work disability status with RA Core Data Set variables and indices were analyzed using descriptive statistics and regression analyses. Results: At the time of first symptoms, 86% of men (range 57%-100% among countries) and 64% (19%-87%) of women <65 years were working. More than one third (37%) of these patients reported subsequent work disability because of RA. Among 1,756 patients whose symptoms had begun during the 2000s, the probabilities of continuing to work were 80% (95% confidence interval (CI) 78%-82%) at 2 years and 68% (95% CI 65%-71%) at 5 years, with similar patterns in high-GDP and low-GDP countries. Patients who continued working versus stopped working had significantly better clinical status for all clinical status measures and patient self-report scores, with similar patterns in high-GDP and low-GDP countries. However, patients who had stopped working in high-GDP countries had better clinical status than patients who continued working in low-GDP countries. The most significant identifier of work disability in all subgroups was Health Assessment Questionnaire (HAQ) functional disability score. Conclusions: Work disability rates remain high among people with RA during this millennium. In low-GDP countries, people remain working with high levels of disability and disease activity. Cultural and economic differences between societies affect work disability as an outcome measure for RA.

X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX

Objective: To describe a new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability (XMESID) and identify the gene defect underlying this disorder. Methods: The authors studied a family in which six boys over two generations had intractable seizures using a validated seizure questionnaire, clinical examination, and EEG studies. Previous records and investigations were obtained. Information on seizure disorders was obtained on 271 members of the extended family. Molecular genetic analysis included linkage studies and mutational analysis using a positional candidate gene approach. Results: All six affected boys had myoclonic seizures and TCS; two had infantile spasms, but only one had hypsarrhythmia. EEG studies show diffuse background slowing with slow generalized spike wave activity. All affected boys had moderate to profound intellectual disability. Hyperreflexia was observed in obligate carrier women. A late-onset progressive spastic ataxia in the matriarch raises the possibility of late clinical manifestations in obligate carriers. The disorder was mapped to Xp11.2-22.2 with a maximum lod score of 1.8. As recently reported, a missense mutation (1058C>T/P353L) was identified within the homeodomain of the novel human Aristaless related homeobox gene (ARX). Conclusions: XMESID is a rare X-linked recessive myoclonic epilepsy with spasticity and intellectual disability in boys. Hyperreflexia is found in carrier women. XMESID is associated with a missense mutation in ARX. This disorder is allelic with X-linked infantile spasms (ISSX; MIM 308350) where polyalanine tract expansions are the commonly observed molecular defect. Mutations of ARX are associated with a wide range of phenotypes; functional studies in the future may lend insights to the neurobiology of myoclonic seizures and infantile spasms.

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Clinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic and non-specific, with mutations (duplication, expansion, missense, and deletion mutations) in the Aristaless related homeobox gene, ARX, were analysed. Seizures were observed with all mutations and occurred in 29 patients, including one family with a novel myoclonic epilepsy syndrome associated with the missense mutation. Seventeen patients had infantile spasms. Other phenotypes included mild to moderate MR alone, or with combinations of dystonia, ataxia or autism. These data suggest that mutations in the ARX gene are important causes of MR, often associated with diverse neurological manifestations. (C) 2002 Elsevier Science B.V. All rights reserved.

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Two families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 by in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C >T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the ARX gene. (C) 2002 Wiley-Liss, Inc.

Como elaborar programa de aten????o ?? sa??de da mulher que enfrente assimetrias de cor, ra??a ou etnia?

O caso aborda o processo de estrutura????o de pol??tica p??blica voltada para o combate aos preconceitos de g??nero e ra??a no Sistema ??nico de Sa??de. Por meio da experi??ncia de Ana Cl??udia, enfermeira e pesquisadora da sa??de da mulher, s??o relatados epis??dios comuns no cotidiano de mulheres negras em per??odo de pr??-natal, parto e puerp??rio. Al??m disso, ao longo da narrativa, s??o apresentadas informa????es sobre pol??ticas, planos e projetos do setor p??blico, al??m de dados de pesquisas, sobre a tem??tica da sa??de da popula????o negra e da mulher. Apesar de seu foco na estrutura????o de um programa de combate ?? discrimina????o na sa??de p??blica, o caso suscita quest??es para debate nas ??reas de diversidade racial e de g??nero, al??m de t??picos relacionados ?? gest??o de pol??ticas p??blicas. O relato pode ser aplicado em cursos sobre pol??ticas p??blicas e desenho e gest??o de programas e projetos

G??nero, ra??a e espa??os de poder: o caso de Maria Ant??nia e Geraldo

O caso relata uma situa????o de promo????o em ??rg??o p??blico na qual dois funcion??rios ??? uma mulher negra e um homem branco - se mostram como candidatos ao cargo. S??o apresentados os perfis e habilidades profissionais dos dois servidores e, ao final, a decis??o tomada pelo Secret??rio, chefe de ambos. O estudo suscita discuss??es sobre pr??ticas discriminat??rias nos espa??os de poder das institui????es p??blicas e o papel do dirigente para combater ou difundir tais pr??ticas. Pode ser aplicado em cursos sobre lideran??a, gest??o de pessoas e ??tica e servi??o p??blico

Gentileza ou ass??dio: conflitos de g??nero e de ra??a nas rela????es de trabalho

Com o afastamento do chefe do setor por quest??es m??dicas, Carla, que j?? exercia eventualmente a chefia da equipe, tornou-se a substituta do cargo, s?? n??o contava com o ass??dio de Ricardo, funcion??rio querido por todos. As investidas foram ficando cada vez mais agressivas e Carla n??o sabia mais como lidar com a situa????o. Come??ou a ter problemas com a sua equipe e sofrer difama????es por parte de Ricardo. O cen??rio encontrado pelo chefe ao voltar da licen??a foi de uma equipe desestabilizada. O caso trata do tema de ass??dio moral, agregado ?? quest??o racial e de g??nero, e suscita discuss??o sobre como um dirigente deve atuar para evitar a pr??tica dos ass??dios moral e sexual na equipe que gerencia, bem como para remediar situa????es j?? consolidadas. Pode ser aplicado em cursos sobre lideran??a, gest??o de pessoas e ??tica e servi??o p??blico

G??nero, ra??a e compet??ncias de dire????o no servi??o p??blico federal

O relat??rio, que teve sua publica????o apoiada pela Canad?? School of Public Service, apresenta os resultados de uma pesquisa sobre a dificuldade de acesso de mulheres e negros aos cargos superiores da administra????o p??blica federal, bem como os conhecimentos, habilidades e atitudes necess??rios para o desempenho de cargos de dire????o desses segmentos

Servidores p??blicos federais: ra??a/cor - 2014

A Escola Nacional de Administra????o P??blica (Enap) lan??ou o quinto folder da s??rie Enap Estudos. A pesquisa possui o seguinte t??tulo: ???Servidores P??blicos Federais ??? Ra??a/Cor???. Os dados foram extra??dos do Sistema Integrado de Recursos Humanos (Siape), cedidos pelo Minist??rio do Planejamento, Or??amento e Gest??o, e do Censo Demogr??fico de 2010 do Instituto Brasileiro de Geografia e Estat??stica (IBGE). O folder apresenta informa????es sobre o perfil dos servidores do Poder Executivo, segundo a ra??a ou cor.

Planeamento espacial marinho das áreas marinhas protegidas: o caso de estudo da ára protegida de gestão de recursos: Caloura - ilhéu de Vila Franca do Campo

Tese de Doutoramento, Ciências do Mar (Ecologia Marinha), 26 de Novembro de 2013, Universidade dos Açores.

Teores de carboidratos, proteínas e aminoácidos livres durante o desenvolvimento de raízes tuberosas do feijão macuco (Pachyrrhizus tuberosus (Lam.) Spreng.), em área de várzea, Amazonas, Brasil

Entre as espécies que produzem tubérculos amiláceos nas condições tropicais, encontra-se Pachyrrhizus tuberosus, leguminosa conhecida popularmente como feijão macuco ou jacatupé. Propôs-se estudar alguns aspectos fisiológicos do desenvolvimento dessa espécie em uma area de várzea. Foi estudado o comportamento de três introduções (2.2, 1.2 e 1.1.6) da coleção do programa de melhoramento de hortaliças do Instituto Nacional de Pesquisas da Amazônia - INPA (definidas como 1, 2 e 3), submetidas a duas formas de manejo: com e sem tutoramento das plantas e com e sem poda das inflorescências. A poda das inflorescências resultou em um aumento nos teores de xilose, glicose, açúcares redutores, proteínas e aminoácidos ao longo do desenvolvimento. Foram observadas variações nos teores de xilose, açúcares redutores e proteínas entre as introduções estudadas. O teor de amido nas raízes tuberosas não mostrou variação ao longo do desenvolvimento, em nenhum dos tratamentos estudados.

Substituição do fubá de milho (Zea Mays, L.) por farinha de pupunha (Bactris Gasipaes, H. B. K.) em rações para Alevinos de Tambaqui (Colossoma Macropomum, Cuvier 1818)1

São apresentados os resultados da substituição do fubá de milho por farinha de pupunha, através do desempenho em crescimento e composição corporal de alevinos de tambaqui, alimentados durante 112dias com quatro dietas, constituídas de uma ração padrão e três níveis de substituição do fubá de milho. Osresultados demonstram que a farinha de pupunha pode substituir completamente o fubá de milho nas dietas para estes alevinos, sem afetar seu desempenho e composição corporal.