INTRODUÇÃO: A síndrome de Alport (SA) é uma doença hereditária que ocorre por variantes nos genes COL4A3/4/5. Padrões de hereditariedade incluem ligado ao X (SALX), autossómica dominante (SAAD) ou recessiva (SAAR) e digénica. As alterações do colagénio tipo IV α3α4α5 podem comprometer a estrutura da membrana basal do rim, cóclea e olho. As manifestações oculares incluem erosões corneanas recorrentes, lenticone,...
Uveitis is a heterogeneous collection of infrequent diseases, which poses significant challenges to cost-effective research in the field. Medical registries are being increasingly recognized as crucial tools to provide high-quality data, thus enabling prospective clinical research. This paper describes the design and technical structure development of an innovative countrywide electronic medical record for uvei...
Does size matter for new firms and do they need to be large to be profitable? From small to large firms, a wide range of arguments have explored the possible strengths and liabilities associated with size. Despite the long interest in the relation between size and profitability, the empirical evidence is mixed and inconclusive. To date, studies focus mainly on established firms. In order to advance the knowledg...
Fourty-eight years old woman with history of non- -Hodgkin's lymphoma, treated with chemoradiotherapy. Mammary MRI shows multiple varicose veins along the breast parenchyma. CT angiography showed superior SVC obliteration at the azygos vein with marked subcutaneous collateral circulation. This is a superior vena cava syndrome due to non-Hodgkin's lymphoma.
O envelhecimento da população é um fenómeno global, atingindo repercussões sociais, económicas e culturais. Este pode originar o aumento de comorbilidades, afetando a capacidade de autocuidado do idoso, surgindo a dependência física e mental. É neste momento que podem necessitar de cuidadores formais ou informais. Objetivos: Estabeleceu-se como objetivos capacitar os cuidadores informais dos idosos dependentes,...
Background, Hearing impairment in children can compromise the development of language and communication skills, academic achievements, and the negative impact of even minor alterations is recognised. Since the implementation of Universal Newborn Hearing Screening, preschool hearing screening programmes would identify later onset or progressive hearing losses and conductive hearing loss. Early identification of ...
Background: Developmental concepts of 'Theory of Mind' (ToM) suggest that this cognitive domain is an innate human capacity requiring input from the social environment to mature. Research suggests substantial individual differences in ToM, depending on childhood experiences, genetics, and the presence or absence of a neuropsychiatric disorder. None of the existing ToM tests for adult populations have been made ...
Objetivo: Comparar a eficácia do tratamento com injeções intravítreas de ranibizumab e de beva- cizumab em doentes com edema macular (EM) após oclusão venosa da retina (OV). Métodos: Estudo comparativo, retrospetivo, não randomizado, de 22 olhos de 22 doentes com OV e EM submetidos a injeções intravítreas de 0,5 mg ranibizumab (n=12) e 1,25 mg bevacizu- mab (n=10) em regime on demand, durante um período de foll...
Background and objective: Field invasion games, such as rugby union, can be conceptualised as dynamic social systems in which the agents continuously interact to contest ball possession and territorial gain. Accordingly, this study aimed to identify the collective system dynamics of rugby union phases-of-play near the try line by investigating whether ball displacement trajectory on the playing field provides i...