3 research outputs found

    Limites e fronteiras das políticas assistenciais entre os séculos XVI e XVIII: continuidades e alteridades Limits and frontiers of the poor relief and health care policies between the 16th and 18th centuries: continuities and alterities

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    A partir dos conceitos de ação coletiva e de atores com interesses e do pressuposto de que o campo da caridade, assistência e saúde foi politicamente definido desde o início do período moderno, este texto tem dois objetivos principais: por um lado, analisar a construção do sistema assistencial português, identificando as suas linhas de continuidade durante todo o Antigo Regime. Por outro, avaliar as razões da maior eficácia da Coroa de quinhentos quando comparada com os governos da segunda metade de Setecentos, em termos de reforma das estruturas de apoio social e implementação de um novo paradigma assistencial. Em ambos os casos obviamente tendo em conta as diferenças entre os contextos políticos e sociais dos dois momentos em análise.<br>Using the concepts of the collective action and actors with interests and the assumption that the poor relief and health care field was politically defined since the early modern period, this paper has two main purposes: on the one hand, to analyze the construction of the Portuguese assistance system, identifying its lines of continuity during the Ancient Regime. On the other hand, to evaluate the reasons why the Crown of the 16th century was more efficient when compared with the governments of the second half of the 18th century, in terms of reform of the social structures and implementation of a new paradigm of assistance. In both cases, taking into account the differences between the political and social contexts of those two moments

    Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy

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    Abstract Objective To describe selected morphological and developmental features associated with subtelomeric deletion at chromosome 4q. Materials and methods A 21-year old female was brought for gynecologic evaluation of menorrhagia. High-resolution metaphase karyotype and subtelomere fluorescent in-situ hybridization (FISH) analysis were used for genotype determination. Pelvic anatomy was characterized via CT and laparoscopy; MR and CT were used for intracranial imaging. Results A de novo deletion [46,XX del(4)(q32)] was identified cytogenetically and confirmed as a terminal loss via subtelomere FISH. Hand/foot malformation characteristic of deletion at this segment was present. Pelvic CT and laparoscopy revealed normal uterine anatomy. Fallopian tubes appeared grossly unremarkable, and a right ovarian cyst was excised without difficulty. Bilateral broad ligament fibroadipose nodularities were noted adjacent to the uterus between round ligament and fallopian tube. Neurological exam revealed no focal defects, although brain MR identified an abnormal signal intensity at the inferior margin of the globus pallidus, consistent with old lacunar infarct and gliosis. Developmental delay was supported by an observed level of general intellectual function estimated at age seven. Conclusion Terminal deletion of the long arm of chromosome 4 is a rare genetic event associated with a distinctive phenotype dependent on the size of the deletion. Chromosomal losses that span the 4q32 band include mental retardation and mild craniofacial anomalies. Here, further characterization of this disorder is offered including precise quantification of the DNA loss, information on brain morphology and pelvic anatomy. Additional studies will be required to characterize the full developmental and physiologic implications of this unusual genetic disorder.</p
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