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We reviewed 1233 cases of familial amyloidotic polyneuropathy (FAP) from 489 Portuguese families registered at the Centro de Estudos de Paramiloidose, Porto, Portugal. It was found that in 159 cases, neither parent had shown symptoms of this hereditary dominant form of peripheral neuropathy. These cases appear to form a distinct group, with a later age at onset (mean 45-1 years, SD 12-0) than the group of patients with one affected parent (mean 31-2 years, SD 6-9) and a geographical origin not quite in the areas where the disease is most prevalent.

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Introduction. Severity and outcome assessments are crucial in trauma. Our aim was to describe the role of a group of cytokines (TNFα, IL-6, IL-10, and HMGB-1) and ICAM-1 as severity and outcome assessment tools and their kinetics in the first 72 h after severe trauma. Materials and Methods. Authors designed a prospective cohort study of severe polytrauma patients (ISS > 15) in a level 1 Trauma Centre. Cytokines and ICAM-1 levels and Th1/Th2 ratios were assessed at admission, 24, 48, and 72 h. SIRS, SIRS with hypoperfusion, and shock were identified. Outcomes considered were ICU admission, ARDS, MODS, and death. Results. Ninety-nine patients were enrolled (median ISS: 29 and age 31). There was an early release of pro- and anti-inflammatory mediators with higher values at admission (except for ICAM-1). On admission, IL-6 was associated with ISS, IL-10 with SIRS with hypoperfusion, and HMGB-1 with shock. Several cytokines were associated with outcomes, especially IL-6 and IL-10 at 72 h with MODS and death. Low TNFα/IL-10 and IL-6/IL-10 ratios at 24 and 72 h were associated with MODS and death. Conclusions. Pro- and anti-inflammatory responses occur simultaneously and earlier after injury. Cytokines may be useful for outcome assessment, especially IL-6 and IL-10. Low Th1/Th2 ratio at 24 to 72 h is associated with MODS and death.

The present study aims (a) to translate and adapt the Igroup Presence Questionnaire (IPQ) to the Portuguese context (semantic equivalence/ conceptual and content validity) and (b) to examine its psychometric properties (reliability and factorial validity). The sample consisted of 478 subjects (285 males and 193 females). The fidelity of the factors varied between 0.53 and 0.83. The confirmatory factor analysis results produced a 14-item version of IPQ-PT, accepting covariance between residual errors of some items of the instrument, as the best structural representation of the data analyzed. The CFA was conducted based on a three-variable model. The fit indexes obtained were X2/df = 2.647, GFI = .948, CFI = .941, RSMEA = .059, and AIC = 254. These values demonstrate that the proposed Portuguese translation of the IPQ maintains its original validity, demonstrating it to be a robust questionnaire to measure the sense of presence in virtual reality studies. It is therefore recommended for use in presence research when using Portuguese samples.

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In this study we found a significant prevalence of exercise-induced HTN in adult patients after successful AC repair despite adequate BP control at rest. Exercise-induced HTN was significantly related to higher peak gradient in the descending aorta and treatment with ACEI. These results highlight the complexity of the adult AC population and show that, even after a good surgical result, several patients remain at high cardiovascular risk and require long-term follow-up.

LVRR occurred in one third of IDCM patients, especially in those with mild hypertension and with less advanced disease, who may have benefited from maximal drug titration.