No abstract

No abstract

Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs). Characteristically, MPSs are recognized by increased excretion in urine of partially degraded GAGs which ultimately result in progressive cell, tissue, and organ dysfunction. There are eleven different enzymes involved in the stepwise degradation of GAGs. Deficiencies in each of those enzymes result in seven different MPSs, all sharing a series of clinical features, though in variable degrees. Usually MPS are characterized by a chronic and progressive course, with different degrees of severity. Typical symptoms include organomegaly, dysostosis multiplex, and coarse facies. Central nervous system, hearing, vision, and cardiovascular function may also be affected. Here, we provide an overview of the molecular basis, enzymatic defects, clinical manifestations, and diagnosis of each MPS, focusing also on the available animal models and describing potential perspectives of therapy for each one.

O contexto produtivo contemporâneo vem passando por transformações significativas, afetando tanto as relações concretas, como as formas de ser dos sujeitos aí incluídos/excluídos. Tais transformações apontam para a necessidade de buscar estratégias de investigação capazes de apreender as complexas relações entre as dimensões subjetivas e objetivas do trabalho contemporâneo, sendo este o objetivo do presente artigo. Inicialmente, discute-se teoricamente os sentidos do trabalho e, depois, suas articulações com os processos identitários contemporâneos. Logo são apresentadas quatro investigações com diferentes coletivos de trabalhadores, a primeira com operários industriais, as outras com trabalhadores em situações precárias: ex-trabalhadores públicos, trabalhadores informais e cooperados. As pesquisas tiveram seu foco nas trajetórias ocupacionais e nos sentidos atribuídos ao trabalho pelos entrevistados e utilizaram como principal instrumento para coleta das informações a entrevista semi-estruturada. A investigação das trajetórias dos trabalhadores privilegiou sua dimensão temporal (passado, presente e futuro), considerando sua inserção laboral e os sentidos do trabalho. A análise dessas experiências de pesquisa permitiu tecer algumas considerações sobre as trajetórias identitárias enquanto estratégia de investigação capaz de ressignificar instrumentos tradicionais de pesquisa de modo a captar o caráter processual da condição humana e as configurações do trabalho contemporâneo (flexível, rápido, precário etc.).Palavras-chave: Identidade, Trajetórias, Sentidos do trabalho, Método. Senses of contemporary work: the trajectories of identification as a research strategyThe productive contemporary context is undergoing significant changes, affecting the concrete relations and the ways of being an included/excluded subject. The purpose of this article is to seek research strategies for understanding the complex relations between subjective and objective dimensions of contemporary work. Initially there is a discussion concerning the theories of the senses of work and then its correlations with contemporary identity processes. After that, four investigations, each one with a different group of workers, are presented: with industrial workers, former public workers, informal workers and cooperative members. The researches were focused on the occupational courses and the senses attributed to work by employees. The semi-structured interview was the main instrument for data collection. The investigation of the trajectories of workers aimed their past, present and future time dimension, considering their job's inclusion and their senses of work. The analysis of these experiences provided some considerations about the trajectories of identification as a research strategy that enable to redefine traditional research instruments. In this way, it was possible to figure out the procedural nature of the human condition and the characteristics of contemporary work (flexible, fast, precarious, etc.).

No abstract

Lysosomal storage diseases (LSDs) are a group of rare, life-threatening genetic disorders, usually caused by a dysfunction in one of the many enzymes responsible for intralysosomal digestion. Even though no cure is available for any LSD, a few treatment strategies do exist. Traditionally, efforts have been mainly targeting the functional loss of the enzyme, by injection of a recombinant formulation, in a process called enzyme replacement therapy (ERT), with no impact on neuropathology. This ineffectiveness, together with its high cost and lifelong dependence is amongst the main reasons why additional therapeutic approaches are being (and have to be) investigated: chaperone therapy; gene enhancement; gene therapy; and, alternatively, substrate reduction therapy (SRT), whose aim is to prevent storage not by correcting the original enzymatic defect but, instead, by decreasing the levels of biosynthesis of the accumulating substrate(s). Here we review the concept of substrate reduction, highlighting the major breakthroughs in the field and discussing the future of SRT, not only as a monotherapy but also, especially, as complementary approach for LSDs.

During the past four years 450 patients (247 female - mean age 36 years and 203 male - mean age 34 years) with intraocular inflammation were evaluated using standard diagnostic criteria, to establish a uveitis survey profile. Patients were divided into four anatomic groups: anterior uveitis (270 cases = 60%), posterior uveitis (108 cases = 24%), panuveitis (54 cases = 12%) and intermediate uveitis (18 cases = 4%). A probable aetiological diagnosis was made in 232 cases (51.5%). Rheumatic diseases were diagnosed most commonly (55 cases = 12.2%), mainly ankylosing spondylitis, as is true for other European countries. Ocular toxoplasmosis was a frequent cause of uveitis, as in Brazil and West Africa, thus requiring a prompt diagnosis and treatment. Behçet's syndrome was associated with HLA B5 (65%) as in Japanese and Mediterranean populations. In our area AIDS retinitis is becoming an important differential diagnosis.

Frente a los cambios en el “mundo del trabajo” contemporáneo cuestiones como globalización, desreglamentación, (des)empleo, precarización, entre otras, hacen parte de las preocupaciones de investigadores y profesionales. En ese contexto emergen cuestionamientos sobre la centralidad del trabajo en sus dimensiones social y psicológica, así como los procesos de significación a él asociados. Este artículo presenta y analiza los principales abordajes teóricos identificados en las literaturas internacional y brasileña en el campo de la Psicología que tratan de los significados y de los sentidos, en particular aquellos atribuidos al trabajo. Entre las diferentes bases epistemológicas que dan soporte a los estudios actuales fueron identificadas las siguientes: cognitivista, construccionista, socio-histórica, existencialista y estudios culturales. Las conclusiones explicitan que los conceptos todavía carecen de mayor precisión, de modo que diferentes autores muchas veces adoptan significados y sentidos del trabajo como si ambos fueran el mismo fenómeno.