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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.
- 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.
- 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.
- Autoimmune diseases and pregnancy: analysis of a series of cases.Publication . Gomes, V; Mesquita, A; Capela, CBACKGROUND: An autoimmune disease is characterized by tissue damage, caused by self-reactivity of different effector mechanisms of the immune system, namely antibodies and T cells. All autoimmune diseases, to some extent, have implications for fertility and obstetrics. Currently, due to available treatments and specialised care for pregnant women with autoimmune disease, the prognosis for both mother and child has improved significantly. However these pregnancies are always high risk. The purpose of this study is to analyse the fertility/pregnancy process of women with systemic and organ-specific autoimmune diseases and assess pathological and treatment implications. METHODS: The authors performed an analysis of the clinical records and relevant obstetric history of five patients representing five distinct autoimmune pathological scenarios, selected from Autoimmune Disease Consultation at the Hospital of Braga, and reviewed the literature. RESULTS: The five clinical cases are the following: Case 1-28 years old with systemic lupus erythematosus, and clinical remission of the disease, under medication with hydroxychloroquine, prednisolone and acetylsalicylic acid, with incomplete miscarriage at 7 weeks of gestation without signs of thrombosis. Case 2-44 years old with history of two late miscarriages, a single preterm delivery (33 weeks) and multiple thrombotic events over the years, was diagnosed with antiphospholipid syndrome after acute myocardial infarction. Case 3-31 years old with polymyositis, treated with azathioprine for 3 years with complete remission of the disease, took the informed decision to get pregnant after medical consultation and full weaning from azathioprine, and gave birth to a healthy term new-born. Case 4-38 years old pregnant woman developed Behcet's syndrome during the final 15 weeks of gestation and with disease exacerbation after delivery. Case 5-36 years old with autoimmune thyroiditis diagnosed during her first pregnancy, with difficult control over the thyroid function over the years and first trimester miscarriage, suffered a second miscarriage despite clinical stability and antibody regression. CONCLUSIONS: As described in literature, the authors found a strong association between autoimmune disease and obstetric complications, especially with systemic lupus erythematosus, antiphospholipid syndrome and autoimmune thyroiditis.
- Comparison of metabolic abnormalities and clinical lipodystrophy 48 weeks after switching from HAART to Trizivir versus continued HAART: the Trizal studyPublication . Lafeuillade, A; Clumeck, N; Mallolas, J; Jaeger, H; Livrozet, JM; Ferreira, MS; Jonhson, S; Cheret, A; Antoun, Z; European Trizal team.PURPOSE: To analyze the evolution of clinical lipodystrophy (LD) and metabolic abnormalities in patients continuing to receive HAART versus patients switched to Trizivir (zidovudine, lamivudine, abacavir) after 48 weeks. METHOD: Patients treated with HAART >6 months with plasma HIV-1 RNA viral load (VL) <400 copies/mL and <50 copies/mL at screening were randomly assigned to continue HAART (103 patients) or to receive Trizivir (106 patients). Clinical LD was evaluated using a standardized patient questionnaire only at baseline, weeks 4 and 8, and then every 8 weeks until Week 48. Laboratory evaluation was performed every 4 weeks. RESULTS: The proportion of patients exhibiting >or=1 LD symptom at baseline was 40% in the Trizivir arm and 50% in HAART arm (difference not significant). After 48 weeks, the prevalence was 28% and 42% respectively (p =.03), and the median number of LD symptoms per patient was 2 in the Trizivir arm and 4 in the continued HAART arm (p =.016). Median decreases in cholesterol levels over the 48-week study period were greater in the Trizivir arm than in the continued HAART arm (-0.80 vs. -0.44 mmol/L; p lt.001). Median triglyceride levels decreased in the Trizivir arm but increased in the continued HAART arm (-0.17 and +0.01 mmol/L; p =.006). Suppression of VL was maintained in most patients with no differences between the two arms. CONCLUSION: A switch from "standard" HAART to Trizivir was associated with an improvement in clinical LD and blood lipid abnormalities after 48 weeks.
- COPD exacerbation or something else? Clinical casePublication . Gouveia, P; Pires, A; Coimbra, F; Trindade, I; Capela, C; Gomes, G; Rua, AThe authors present the case of a 45 -year -old female patient with Down syndrome, and known past medical history of COPD with multiple hospital admissions in the context of exacerbation of his lung disease. The facts refer to his latest hospitalization, whose motive, prior interpreted as a further exacerbation episode, after careful clinical reassessment and use of appropriate additional means of diagnosis, appeared to be due to an unusual cause. By presenting this case, the authors call the attention to the difficulty presented by particular situations, as well as to the risks of uncritical acceptance of common diagnoses.
- Deep cerebral venous thrombosis: a challenging diagnosis.Publication . Pires, A; Rocha, S; Rodrigues, M; Machado, A; Lourenço, E; Ferreira, C
- Dermatomiosite: desafios no tratamento?Publication . Antunes, R; Azevedo, M; Paz, J; Ferreira, MS
- Diabetes e hiperglicemia: factores de prognóstico na pneumonia adquirida na comunidade – estudo retrospectivo em doentes admitidos no Hospital de BragaPublication . Fernandes, V; Ramalho, J; Santos, MJ; Oliveira, N; Pereira, M
- Doença de Still do adulto: como causa do síndrome febril indeterminadoPublication . Diogo, M; Soares, J; Pimentel, T; Ferreira, AFever of unknown origin remains a diagnostic challenge with up to 50% of unexplained cases. Adult-onset Still disease typically present high fever, arthralgia, rash, pharyngitis and serositis, lymphadenopathy and hepatosplenomegaly, inflammatory markers and hepatic enzymes elevation and negative immunological study. The authors present a 46-year old man with previous admissions for fever of unknown origin with a 3-week history of fever and systemic symptoms. The study disclosed anaemia, inflammatory markers and hepatic enzymes elevation, splenomegaly and negative serological and immunological studies. The patient posteriorly presented polyarthralgias and cutaneous rash. The introduction of corticotherapy resolved symptoms and laboratories alterations. Adult-onset Still disease is a heterogeneous and rare disease and the lack of serologic markers as a true gold standard makes diagnosis difficult.