Comparison of body fat content and distribution of familial amyloidotic polyneuropathy patients versus healthy subjects

The deposition of amyloid fibers at the peripheral nervous system can induce motor neuropathy in Familial Amiloidotic Polyneuropethy (FAP) patients. This produces progressive reductions in functional capacity. The only treatment for FAP is a liver transplant, followed by aggressive medication that can affect patients' metabolism. To our knowledge, there are no data on body fat distribution or comparison between healthy and FAP subjects, which may be important for clinical assessment and management of this disease. PURPOSE: To analyze body fat content and distribution between FAP patients and healthy subjects. METHODS: Body fat content and distribution were measured through Double Energy X-ray Densitometry (DXA) in two groups. Group 1 consisted of 43 Familial Amyloidotic Polyneuropathy patients (19 males, 32 + 8 Yrs, and 24 females, 37 + 5 yrs), who had liver transplant less than 2 months before. Group 2 consisted of 18 healthy subjects of similar age (8 males, 36 + 7 yrs, and 10 females, 39 + 5 yrs). RESULTS: Healthy subjects showed higher values than FAP patients for: BMI (24,2+2,3kg/m2 vs 22,3+3,8 kg/m2 respectively, p<0,05), % trunk BF (26,21+8,34kg vs 20,78+9,05kg respectively, p<0,05), % visceral BF (24,43+7,97% vs 19,21+9,30% respectively, p<0,05), % abdominal BF (26,63+8,51% vs 20,63+10,35% respectively, p<0,05) abdominal subcutaneous BF (0,533+0,421kg vs 0,353+0,257kg respectively, p=0,05), abdominal BF/BF ratio (0,09+0,02 vs 0,08+0,02 respectively, p<0,05) and abdominal BF/trunk BF ratio (0,19+0,03 vs 0,17+0,03 respectively, p<0,05). CONCLUSIONS: These results showed that FAP patients soon after liver transplantation exhibited a healthier body fat profile compared to controls. However, fat content and distribution varied widely in FAP subjects, suggesting an individualized approach for assessment and intervention rather than general guidelines. Future research is needed to investigate the long term consequences on body fat following liver transplant in this population.

Clinical and genetic factors predicting response to therapy in patients with Crohn’s disease

Aim - To identify clinical and/or genetic predictors of response to several therapies in Crohn’s disease (CD) patients. Methods - We included 242 patients with CD (133 females) aged (mean ± standard deviation) 39 ± 12 years and a disease duration of 12 ± 8 years. The single-nucleotide polymorphisms (SNPs) studied were ABCB1 C3435T and G2677T/A, IL23R G1142A, C2370A, and G9T, CASP9 C93T, Fas G670A and LgC844T, and ATG16L1 A898G. Genotyping was performed with real-time PCR with Taqman probes. Results - Older patients responded better to 5-aminosalicylic acid (5-ASA) and to azathioprine (OR 1.07, p = 0.003 and OR 1.03, p = 0.01, respectively) while younger ones responded better to biologicals (OR 0.95, p = 0.06). Previous surgery negatively influenced response to 5-ASA compounds (OR 0.25, p = 0.05), but favoured response to azathioprine (OR 2.1, p = 0.04). In respect to genetic predictors, we observed that heterozygotes for ATGL16L1 SNP had a significantly higher chance of responding to corticosteroids (OR 2.51, p = 0.04), while homozygotes for Casp9 C93T SNP had a lower chance of responding both to corticosteroids and to azathioprine (OR 0.23, p = 0.03 and OR 0.08, p = 0.02,). TT carriers of ABCB1 C3435T SNP had a higher chance of responding to azathioprine (OR 2.38, p = 0.01), while carriers of ABCB1 G2677T/A SNP, as well as responding better to azathioprine (OR 1.89, p = 0.07), had a lower chance of responding to biologicals (OR 0.31, p = 0.07), which became significant after adjusting for gender (OR 0.75, p = 0.005). Conclusions - In the present study, we were able to identify a number of clinical and genetic predictors of response to several therapies which may become of potential utility in clinical practice. These are preliminary results that need to be replicated in future pharmacogenomic studies.

Formar o “leitor público”: contributos do teatro para o desenvolvimento da leitura em voz alta

Dissertação apresentada à Escola Superior de Educação de Lisboa para obtenção de grau de mestre em Educação Artística, na especialização de Teatro na Educação

Comparative study of stereopsis with three different tests: TNO®, Stereo Acuity Test Fly® and StereoTAB® in students in higher school

Purpose: Stereopsis is the perception of depth based on retinal disparity. Global stereopsis depends on the process of random dot stimuli and local stereopsis depends on contour perception. The aim of this study was to correlate 3 stereopsis tests: TNO®, StereoTA B®, and Fly Stereo Acuity Test® and to study the sensitivity and correlation between them, using TNO® as the gold standard. Other variables as near convergence point, vergences, symptoms and optical correction were correlated with the 3 tests. Materials and Methods: Forty-nine students from Escola Superior de Tecnologia da Saúde de Lisboa (ESTeSL), aged 18-26 years old were included. Results: The stereopsis mean (standard-deviation-SD) values in each test were: TNO® = 87.04” ±84.09”; FlyTest® = 38.18” ±34.59”; StereoTA B® = 124.89’’ ±137.38’’. About the coefficient of determination: TNO® and StereoTA B® with R2 = 0.6 e TNO® and FlyTest® with R2 =0.2. Pearson correlation coefficient shows a positive correlation between TNO® and StereoTA B® (r = 0.784 with α = 0.01). Phi coefficient shows a strong and positive association between TNO® and StereoTA B® (Φ = 0.848 with α = 0.01). In the ROC Curve, the StereoTA B® has an area under the curve bigger than the FlyTest® with a sensivity of 92.3% for 94.4% of specificity, so it means that the test is sensitive with a good discriminative power. Conclusion: We conclude that the use of Stereopsis tests to study global Stereopsis are an asset for clinical use. This type of test is more sensitive, revealing changes in Stereopsis when it is actually changed, unlike the test Stereopsis, which often indicates normal Stereopsis, camouflaging a Stereopsis change. We noted also that the StereoTA B ® is very sensitive and despite being a digital application, possessed good correlation with the TNO®.