In recent years, several emerging zoonotic vector-borne infections with potential impact on human health have been identified in Europe, including tularaemia, caused by Francisella tularensis.This remarkable pathogen, one of the most virulent microorganisms currently known, has been detected in increasingly new settings and in a wide range of wild species, including lagomorphs, rodents, carnivores, fish and inv...
O síndroma de Smith-Lemli-Opitz (SLO) é uma doença genética autossómica recessiva caracterizada por múltiplas anomalias congénitas sendo as mais frequentes o atraso de crescimento e desenvolvimento, microcefalia, anomalias faciais, anomalias genitais e sindactilia e ou polidactilia associadas a outras anomalias menos frequentes. Não há nenhuma anomalia congénita patognomónica nem obrigatória para o diagnóstico ...
As Imunodeficiências Severas Combinadas (SCID) são um grupo heterogéneo de doenças. caracterizadas por profunda deficiência da imunidade celular e humoral e que compreende entidades funcional e geneticamente muito diversas. Os doentes afectados morrem geralmente durante o primeiro ano de vida, a menos que seja efectuado transplante medular ou tratamento enzimático substitutivo.Os autores descrevem um caso de um...
OBJECTIVE: To evaluate the elderly persons' functionality, based on the International Classification of Functionality. METHODS: a cross-sectional, descriptive study; a stratified random sample of 903 elderly persons; a confidence level of 95%; and a margin of error of 2.5%. Questionnaire based on the International Classification of Functionality; data was collected based on structured interviews undertaken by ...
Introdução: O pâncreas anular é uma anomalia do desenvolvimento rara, representando 1% das obstruções intestinais neonatais. Caso Clínico: Apresentamos um caso de obstrução duodenal diagnosticado em ecografia de rotina às 32 semanas de gestação. O sinal ecográfico da “dupla bolha” foi o único achado, tendo este persistido até à data do parto, às 39 semanas. O diagnóstico de pâncreas anular foi feito ao terceiro...
Lung infections caused by invasive filamentous fungi are very rare conditions in AIDS, but must be considered in patients with profound immune suppression especially in the presence of additional risk factors, such as hematologic malignancies, corticosteroid therapy, neutropenia, and chemotherapy. The authors report a case of dual lung infection caused by Aspergillus and Mucor, which occurred in a 34-year-old A...
Introduction: Cytokines regulate the growth, function and differentiation of cells and help to steer immune response and inflammation. In this study we focused our attention in two proinflammatory cytokines: IL-6 and TNFa. It is known that their overexpression is responsible for initiation, maintenance and recurrence of skin lesions in psoriatic patients. Therefore, it is important to investigate genetic biomar...
Introduction: Psoriasis is a chronic inflammatory skin disease affecting 2–3% of the world population. Patients with psoriasis (Ps) have higher prevalence of lipid disorders when compared to unaffected individuals. These patients, especially those with severe and prolonged disease, have an increased morbidity and mortality from cardiovascular events. Apolipoprotein E (ApoE), a protein involved in lipid metaboli...
Publicado em : "Journal of Tissue Engineering and Regenerative Medicine", vol. 7, supp. 1 (2013) ; Damage to the Peripheral Nervous System (PNS) is remarkably common and occurs mainly from trauma or a complication of surgery [1]. Although recovery of nerve function occurs in some mild injuries, outcomes are frequently poor following severe trauma, resulting in long-term impairment of limb function, dysaesthesi...
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