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- Avaliação da Prevalência e Caracterização da Rinossinusite nos Cuidados de Saúde Primários em PortugalPublication . Barros, E; Silva, A; Sousa Vieira, A; André, C; Silva, D; Branquinho Prata, J; Pinto Ferreira, J; Santos, M; Gonçalves, P; Leiria, E; Gonçalves, N; Andrade, SObjectivos: Determinar a prevalência da rinossinusite (RS) diagnosticada nos Centros de Saúde (CS) portugueses, aferindo formas de apresentação e tratamento desta patologia. Desenho do Estudo: Estudo epidemiológico, transversal. Material e Métodos: Entre Maio/2008 e Junho/2009 avaliouse uma coorte de utentes que se dirigiram à consulta de clínica geral, nos CS seleccionados. Resultados: Incluíramse 1.201 utentes, 71% do sexo feminino com idade média de 41,7±13,2 anos. A prevalência global de RS foi de 19,2%, [n=231; 17,1%, 21,5%; IC 95%]. A prevalência de RS aguda foi de 7,4% [n=89; 6,0%, 9,0%; IC 95%] e a de RS crónica de 13,0% [n=156; 11,2%, 15,0%; IC 95%]. Conclusões: A prevalência pontual de RS calculada foi elevada, principalmente a de RS crónica. Metade dos doentes (50%) já tinha efectuado pelo menos um exame complementar de diagnóstico. Verifica-se algum desfasamento entre as orientações para diagnóstico e tratamento da RS e a prática actual nos CS.
- Different in Vivo Reactivity Profile in Health Care Workers and Patients with Spina Bifida to Internal and External Latex Glove Surface-Derived Allergen ExtractsPublication . Peixinho, CM; Tavares-Ratado, P; Gabriel, MF; Romeira, AM; Lozoya-Ibanez, C; Taborda-Barata, L; Tomaz, CTBACKGROUND: Allergy to natural rubber latex is a well-recognized health problem, especially among health care workers and patients with spina bifida. Despite latex sensitization being acquired in health institutions in both health care workers and patients with spina bifida, differences in allergen sensitization profiles have been described between these two risk groups. OBJECTIVE: To investigate the in vivo reactivity of health care workers and patients with spina bifida to extracts of internal and external surfaces of latex gloves and also to specific extracts enriched in major allergens for these risk groups. METHODS: Gloves from different manufacturers were used for protein extraction, and salt precipitation and hydrophobic interaction chromatography (HIC) were applied to obtain the enriched latex extracts. The major latex allergens were quantified by an enzyme immunoassay. The extracts obtained were tested in 14 volunteers using skin prick tests (SPT). RESULTS: Latex glove extracts enriched in the hydrophobic allergens that are most often seen in patients with spina bifida were obtained by selective precipitation, whereas HIC produced extracts enriched in the hydrophilic allergens commonly found in health care workers. The health care workers had positive SPTs to glove extracts from internal surfaces and to the hydrophilic allergen-enriched extracts. By contrast, patients with spina bifida had larger skin reactions both to external glove extracts and to the extracts enriched with the hydrophobic major allergens for this risk group. Despite the protein concentration of these extracts being less than half the concentration of the commercial extract, the weal-and-flare reactions were of similar magnitude. CONCLUSION: Using novel latex extracts, our study showed a different in vivo reactivity pattern in health care workers and in patients with spina bifida to extracts of the internal and external surfaces of gloves, which suggests that sensitization may occur by different routes of exposure, and that this influences the allergen reactivity profiles of these risk groups
- Mutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause Coats PlusPublication . Anderson, B; Kasher, P; Mayer, J; Szynkiewicz, M; Jenkinson, E; Bhaskar, S; Urquhart, J; Daly, S; Dickerson, J; O'Sullivan, J; Leibundgut, E; Muter, J; Abdel-Salem, G; Babul-Hirji, R; Baxter, P; Berger, A; Bonafé, L; Brunstom-Hernandez, J; Buckard, J; Chitayat, D; Chong, W; Cordelli, D; Ferreira, P; Fluss, J; Forrest, E; Franzoni, E; Garone, C; Hammans, S; Houge, G; Hughes, I; Jacquemont, S; Jeannet, P; Jefferson, R; Kumar, R; Kutschke, G; Lundberg, S; Lourenço, C; Mehta, R; Naidu, S; Nischal, K; Nunes, L; Ounap, K; Philippart, M; Prabhakar, P; Risen, S; Schiffmann, R; Soh, C; Stephenson, J; Stewart, H; Stone, J; Tolmie, J; van der Knaap, M; Vieira, JP; Vilain, C; Wakeling, E; Wermenbol, V; Whitney, A; Lovell, S; Meyer, S; Livingston, J; Baerlocher, G; Black, G; Rice, G; Crow, YCoats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
- Antiphospholipid Syndrome and Recurrent Thrombosis--Limitations of Current Treatment StrategiesPublication . Coelho Henriques, C; Lourenço, F; Lopéz, B; Panarra, A; Riso, NAntiphospholipid syndrome (APS) is a systemic autoimmune disorder that is characterised by the presence of antiphospholipid antibodies and a common cause of vascular thromboembolic phenomena. The management of patients with APS is currently directed to antithrombotic medications. The international therapeutic guidelines recommend oral anticoagulation with warfarin indefinitely after the first thrombotic episode. However, therapeutic guidelines lack for a minority group of patients - the patients appropriately anticoagulated with recurrent thromboembolic phenomena. The authors present a clinical report that reveals the therapeutic and diagnostic complexity of this specific group of patients. Regarding recent studies, APS has been revealed as a complex syndrome with multiple pathophysiological mechanisms previously unknown. In this context, new therapeutic approaches have been defended and empirically experienced, with potentially promising results.
- Multiple Arthritis: Three in OnePublication . Coelho Henriques, C; Lourenço, F; Lopéz, B; Panarra, A; Riso, N