Browsing by Author "Sousa, M"
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- Abernethy malformation: beware in cases of unexplained hepatic encephalopathy in adults-case report and review of the relevant literaturePublication . Mesquita, RD; Sousa, M; Vilaverde, F; Cardoso, RThe Abernethy malformation consists of a congenital extrahepatic portosystemic shunt and is believed to be extremely rare in humans. The potential implications of abnormal portovenous shunting and decreased hepatic portal flow are numerous and potentially serious. Although congenital extrahepatic portosystemic shunts are increasingly suspected and diagnosed in specialized centres, much of their clinical presentation and natural history is not fully understood. Symptoms of portosystemic shunt are mainly caused by increased levels of ammonia, which lead to signs of encephalopathy. Therapeutic options depend on the type of shunt and its clinical course, so the classification of the congenital portosystemic shunt is a key finding in these patients.
- 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.
- Ligate-and-Resect Technique for Resection of a Large Pseudo-Pedunculated Subepithelial Lesion in the Ascending ColonPublication . Mendes, SS; Pinho, R; Leite, S; Ponte, A; Silva, J; Rodrigues, J; Sousa, M; Carvalho, J
- Transanal total mesorectal excision with triangle rules: a road map to prevent injuriesPublication . Silva, PA; Goulart, A; Sousa, M; Rios, H; Atallah, S; Leão, P
- Treatment planning systems dosimetry auditing project in PortugalPublication . Lopes, MC; Cavaco, A; Jacob, K; Madureira, L; Germano, S; Faustino, S; Lencart, J; Trindade, M; Vale, J; Batel, V; Sousa, M; Bernardo, A; Brás, S; Macedo, S; Pimparel, D; Ponte, F; Diaz, E; Martins, A; Pinheiro, A; Marques, F; Batista, C; Silva, L; Rodrigues, M; Carita, L; Gershkevitsh, E; Izewska, JBACKGROUND AND PURPOSE: The Medical Physics Division of the Portuguese Physics Society (DFM_SPF) in collaboration with the IAEA, carried out a national auditing project in radiotherapy, between September 2011 and April 2012. The objective of this audit was to ensure the optimal usage of treatment planning systems. The national results are presented in this paper. MATERIAL AND METHODS: The audit methodology simulated all steps of external beam radiotherapy workflow, from image acquisition to treatment planning and dose delivery. A thorax CIRS phantom lend by IAEA was used in 8 planning test-cases for photon beams corresponding to 15 measuring points (33 point dose results, including individual fields in multi-field test cases and 5 sum results) in different phantom materials covering a set of typical clinical delivery techniques in 3D Conformal Radiotherapy. RESULTS: All 24 radiotherapy centers in Portugal have participated. 50 photon beams with energies 4-18 MV have been audited using 25 linear accelerators and 32 calculation algorithms. In general a very good consistency was observed for the same type of algorithm in all centres and for each beam quality. CONCLUSIONS: The overall results confirmed that the national status of TPS calculations and dose delivery for 3D conformal radiotherapy is generally acceptable with no major causes for concern. This project contributed to the strengthening of the cooperation between the centres and professionals, paving the way to further national collaborations.