HB - Medicina Interna
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- Acidente Vascular Cerebral em Doente com Anemia de Células FalciformesPublication . Caridade, S; Machado, A; Ferreira, CStroke in patients with sickle cell anemia is multifactorial but occurs mainly by 2 mechanisms: occlusive arteriopathy and obliteration of small vessels with plugs of sickle cells. The high individual risk can be assessed by simple and well-defined strategies such as ultrasounds with transcranial and cervical Doppler Ultrasonography. The authors report the clinical case of a 25 year-old black female patient with sickle cell anemia, who was admitted with right hemiparesis. Cerebral MRI showed small recent fronto-temporo-parietal cortical-subcortical infarcts and several, older, posterior periventricular lacunae of left preponderance. A brief discussion is made, with particular emphasis on the proper treatment and prevention of its cerebrovascular complications.
- Adenoma ectópico das paratiróides, um achado na radiografia do tórax!Publication . Pacheco, AP; Abreu, G; Fernandes, N; Esperança, S; Gonçalves, F
- Adult diagnosis of Swyer-James-MacLeod syndrome: a case reportPublication . Capela, C; Gouveia, P; Sousa, M; Regadas, MJINTRODUCTION: Swyer-James-MacLeod syndrome or unilateral hyperlucent lung syndrome is a rare entity associated with postinfectious bronchiolitis obliterans occurring in childhood. It is characterized by hypoplasia and/or agenesis of the pulmonary arteries resulting in pulmonary parenchyma hypoperfusion. CASE PRESENTATION: Here we report the case of a 53-year-old Caucasian woman with Swyer-James-MacLeod syndrome found in the differential diagnosis workup for a new onset of heart failure, secondary to pulmonary arterial hypertension complicated by a patent ductus arteriosus. CONCLUSION: Typically, this disorder is diagnosed in childhood after evaluation for recurrent respiratory infections, but sometimes an indolent course means diagnosis is not made until adulthood.
- Alteração do comportamento. Uma causa por vezes esquecidaPublication . Cabral, C; Lages, A; Araújo, R; Gonçalves, F
- AmiloidosePublication . Lage, A; Cabral, C; Gonçalves, A; Araújo, R
- Anemia hemolítica: duas faces do mesmo diagnósticoPublication . Tribuna, C; Apolinário, I; Ângela, C; Fereira, S
- Artrite psoriática – um diagnóstico fácilPublication . Santos, MJ; Monteiro, M; Pimentel, T
- Associação entre a mortalidade e a admissão na Medicina Interna ao fim-de-semanaPublication . Tribuna, C; Apolinário, I; Carvalho, A; Ângela, C; Gonçalves, FN
- Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese populationPublication . Pimentel-Santos, FM; Ligeiro, D; Matos, M; Mourão, AF; Sousa, E; Pinto, P; Ribeiro, A; Sousa, M; Barcelos, A; Godinho, F; Cruz, M; Fonseca, JE; Guedes-Pinto, H; Trindade, H; Evans, DM; Brown, MA; Branco, JCOBJECTIVE: Association between ankylosing spondylitis (AS) and two genes, ERAP1 and IL23R, has recently been reported in North American and British populations. The population attributable risk fraction for ERAP1 in this study was 25%, and for IL23R, 9%. Confirmation of these findings to ERAP1 in other ethnic groups has not yet been demonstrated. We sought to test the association between single nucleotide polymorphisms (SNPs) in these genes and susceptibility to AS among a Portuguese population. We also investigated the role of these genes in clinical manifestations of AS, including age of symptom onset, the Bath Ankylosing Spondylitis Disease Activity, Metrology and Functional Indices, and the modified Stoke Ankylosing Spondylitis Spinal Score. METHODS: The study was conducted on 358 AS cases and 285 ethnically matched Portuguese healthy controls. AS was defined according to the modified New York Criteria. Genotyping of IL23R and ERAP1 allelic variants was carried out with TaqMan allelic discrimination assays. Association analysis was performed using the Cochrane-Armitage and linear regression tests of genotypes as implemented in PLINK for dichotomous and quantitative variables respectively. A meta-analysis for Portuguese and previously published Spanish IL23R data was performed using the StatsDirect Statistical tools, by fixed and random effects models. RESULTS: A total of 14 nsSNPs markers (8 for IL23R, 5 for ERAP1, 1 for LN-PEP) were analysed. Three markers (2 for IL23R and 1 for ERAP1) showed significant single-locus disease associations, confirming that the association of these genes with AS in the Portuguese population. The strongest associated SNP in IL23R was rs1004819 (OR=1.4, p=0.0049), and in ERAP1 was rs30187 (OR=1.26, p=0.035). The population attributable risk fractions in the Portuguese population for these SNPs are 11% and 9.7% respectively. No association was seen with any SNP in LN-PEP, which flanks ERAP1 and was associated with AS in the British population. No association was seen with clinical manifestations of AS. CONCLUSION: These results show that IL23R and ERAP1 genes are also associated with susceptibility to AS in the Portuguese population, and that they contribute a significant proportion of the population risk for this disease.
- Atypical presentation of an intracardiac massPublication . Abreu, G; Azevedo, P; Bettencourt, N; Vieira, C; Arantes, C; Quina, C; Vilaça, A; Marques, J