Browsing by Author "Sousa, A"
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- Efeito do exercício físico no metabolismo lipídico dos idososPublication . Veríssimo, MT; Aragão, A; Sousa, A; Barbosa, B; Ribeiro, H; Costa, D; Saldanha, MHPURPOSE: To assess the effect of regular physical exercise on plasma lipids and apoproteins in an elderly group. MATERIAL AND METHODS: Sixty-three old people of both sexes, aged between 65 and 94, were randomly distributed between a test group (n = 31) and a control group (n = 32). The test group followed a program of physical exercise for eight months, with intensity of 60% to 80% of heart rate reserve, consisting of three weekly sessions, on alternate days, of 60 minutes each. Before the beginning of the program and eight months afterwards, blood samples were collected to assess total cholesterol, triglycerides, HDL-C, HDL2-C. HDL3-C, apo A1, apo B-100 and apo (a). The ratios total cholesterol/HDL-C, LDL-C/HDL-C, HDL2-C/HDL3-C and apo A1/apo B-100 were also calculated. RESULTS: In the test group total cholesterol, triglycerides, LDL-C, apo B-100, total cholesterol/HDL-C and LDL-C/HDL-C decreased significantly; HDL-C, HDL2-C, apo A1, HDL2-C/HDL3-C and apo A1/apo B-100 increased significantly; HDL3-C and apo (a) did not change. The control group did not present any significant alterations in any of the parameters assessed. CONCLUSIONS: Regular physical exercise decreases vascular risk and may help to reduce cardiovascular events in the elderly.
- Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practicePublication . Costa, MC; Magalhães, P; Ferreirinha, F; Guimarães, L; Januário, C; Gaspar, I; Loureiro, L; Vale, J; Garrett, C; Regateiro, FJ; Magalhães, M; Sousa, A; Maciel, P; Sequeiros, JHuntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenatal testing (four were done for family studies). Most referring physicians were neurologists (90.6%); 82.8% of all clinical diagnosis were confirmed, while 83.1% of those sent for exclusion were in fact excluded. In presymptomatic testing, an excess of female subjects (59.4%) was again verified; 37.5% of the consultands were found to be carriers. None of the foetuses, in four prenatal tests, were mutation carriers. One juvenile case was inherited from her mother. Our patient population is very similar to others described so far, namely in terms of mean age at onset and (CAG)(n) distribution, except perhaps for a higher frequency of large normal (class 2) alleles (3.7%). We also identify cases posing particular problems for genetic counselling, such as, 'homozygosity' that can pose a serious ethical dilemma, carriers of large normal alleles, and 'homoallelism' for a normal gene, which will demand further procedures and may delay results in presymptomatic and prenatal testing.
- Transobturator slings for female stress urinary incontinencePublication . Sousa, A; Jesus, A; Carvalho, M; Carvalho, G; Marques, J; Falcão, F; Torgal, IStress urinary incontinence affects about 20-40% of women. Treatment with transobturator mid-urethral slings is consensually accepted nowadays. The goal of this study was to evaluate the success rate and most frequent complications of surgical treatment with transobturator mid-urethral slings in stress urinary incontinence.