Encontrados 6 documentos, a visualizar página 1 de 1
Deletions within COL11A1 in Type 2 Stickler Syndrome Detected by Multiplex Liga...
Vijzelaar, R; Waller, S; Errami, A; Donaldson, A; Lourenço, T; Rodrigues, M; McConnell, V; Fincham, G; Snead, M; Richards, ABackground: COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutations resulting in either Stickler or Marshall syndrome alter splice sites and result in exon skipping, which because of the exon structure of collagen genes usually leaves the message in-frame....
Effect of antifungal agents on non-Candida albicans Candida species enzymes sec...
Negri, M.; Lourenço, T.; Silva, Sónia Carina; Henriques, Mariana; Azeredo, Joana; Oliveira, RosárioThe infective ability of Candida species depends on specific virulence mechanisms that confer the ability to colonize host surfaces, to invade deeper host tissue or to evade host defences. During the pathogenic process many virulence attributes may be involved including, production of extracellular proteases and haemolytic activity. Nevertheless, in vitro studies have indicated that antifungal agents could be a...
The role of antifungals agents on Candida glabrata biofilms matrix composition
Silva, Sónia Carina; Lourenço, T.; Negri, M.; Henriques, Mariana; Azeredo, Joana; Oliveira, RosárioCandida glabrata was considered, for years, a relatively non-pathogenic saprophyte of the normal flora of healthy individuals and as no causative agent of serious infection in humans. However, its high mortality rate and its quick spread confirm the opposite. In fact, due to the widespread and increased use of immunosuppressive therapy together with broad-spectrum antifungal treatments, the frequency of mucos...
Effect of itraconazole on Candida glabrata biofilm matrix
Oliveira, Rosário; Azeredo, Joana; Henriques, Mariana; Silva, Sónia Carina; Negri, M.; Lourenço, T.The emergence of non-Candida albicans Candida (NCAC) species as a common cause of fungal infection is often associated with the increasing number of immunocompromised patients, the widespread use of indwelling medical devices and the decreased susceptibility to azoles. The ability of Candida species to adapt to a variety of different habitats and to form biofilms is also of major contribution to this increased ...
Síndrome de Alström: Quatro Casos
Melo, A; Santa Marta, I; Kay, T; Lourenço, T; Xavier, A; Pina, R; Lopes, L; Fonseca, GA Síndrome de Alström (SA, MIM# 203800) é uma doença hereditária, de transmissão autossómica recessiva, descrita pela primeira vez em 1959, por Alström. O gene ALMS1, causador da doença, foi identificado em 2002 e localiza-se no cromossoma 2p13. É uma doença genética rara, com o envolvimento de múltiplos órgãos e de evolução progressiva. As principais características fenotípicas incluem: retinopatia pigmentar, ...
Pancreatite Hereditária na Criança
Freira, S; Lourenço, T; Cerqueira, R; Tavares, P; Pereira, G; Barata, D; Cabral, JA pancreatite hereditária define-se pela presença de alterações clínicas, bioquímicas ou radiológicas de inflamação pancreática em dois ou mais familiares com pancreatite documentada. Esta é a quarta família descrita na literatura mundial de pancreatite hereditária com mutação c.364C>T (p.R122C) do gene PRSS1. A criança que constitui o caso index teve o primeiro episódio de dor abdominal aos três anos com inter...
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