Acta Medica Port
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Spinocerebellar ataxia type 27B (SCA27B) is a recently discovered hereditary disease caused by (GAA)≥250 repeat expansion in the fibroblast growth factor 14 (FGF14) gene, and multiple studies have recognized it as one of the most common causes of autosomal dominant ataxia in the European population. We present the case of a 62-year-old Portuguese patient who developed a slowly progressive gait impairment associated with wide-base ataxic gait, dysarthria, left upper limb dysmetria, and dysdiadochokinesia. ⋯ Genetic testing detected a heterozygotic intronic FGF14 repeat expansion with complete penetrance (> 360 repeats), confirming the diagnosis of SCA27B. To our knowledge, we present the first reported case of SCA27B in the Portuguese population.
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Comparative Study
Logistic Regression: Limitations in the Estimation of Measures of Association with Binary Health Outcomes.
Logistic regression models are frequently used to estimate measures of association between an exposure, health determinant or intervention, and a binary outcome. However, when the outcome is frequent (> 10%), model estimates for relative risks and prevalence ratios might be biased. Despite the availability of several alternatives, many still rely on these models, and a consensus is yet to be reached. We aimed to compare the estimation and goodness-of-fit of logistic, log-binomial and robust Poisson regression models, in cross-sectional studies involving frequent binary outcomes. ⋯ The odds ratio overestimated PR with wider 95% CI and higher SE. The overestimation was greater as the outcome of the study became more prevalent, in line with previous studies. In Study 2, the logistic regression was the model with the best fit, illustrating the need to consider multiple criteria when selecting the most appropriate statistical model for each study. Employing logistic regression models by default might lead to misinterpretations. Robust Poisson models are viable alternatives in cross-sectional studies with frequent binary outcomes, avoiding the non-convergence of log-binomial models.
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The importance of deprescribing in clinical practice is growing, particularly in aging populations with polypharmacy scenarios, making it a crucial matter in Portugal, one of Europe's most aged nations. The aim of this study was to investigate deprescribing awareness, training, attitudes, and practices among Portuguese physicians to inform future healthcare strategies. ⋯ This study highlights widespread deprescribing awareness among Portuguese physicians, while simultaneously uncovering considerable gaps in training and inconsistencies in its application. These findings highlight the pressing need for targeted educational initiatives that could contribute to medication optimization for older adults in the national healthcare system. Furthermore, these findings emphasize the importance of policy development and medical education in promoting safe deprescribing.
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Cardiovascular diseases are the leading cause of death globally. The objective of this study was to estimate the 10-year cardiovascular risk in the Portuguese population using the new Systematic Coronary Risk Evaluation 2. Data from the first National Health Examination Survey from 2015 were used. ⋯ In Portugal, in 2015, 36.7% (95% CI: 34.2 - 39.3) and 6.1% (95% CI: 4.8 - 7.4) of the individuals aged between 40 and 69 years had a high and a very high risk of having a cardiovascular disease in the following 10 years, respectively. In 2015, there was a high percentage (42.8%) of the Portuguese population aged 40 to 69 years in high or very high risk of developing cardiovascular disease (fatal and non-fatal) in the following 10 years. A possible explanation may be the high prevalence of risk factors for cardiovascular disease in Portugal.
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Insomnia is one of the most prevalent, persistent, and distressing conditions associated with cancer, affecting almost half of all cancer survivors. Although cognitive-behavioral therapy for insomnia is well established as the gold-standard treatment for insomnia, its accessibility is very limited in routine care. We aim to examine the real-world effectiveness and acceptability of a digital cognitive-behavioral therapy for insomnia for cancer survivors with insomnia symptoms through a randomized controlled trial in Portugal. ⋯ Our cancer trial will test the effects and acceptability of an accessible internet-delivered self-administered cognitive-behavioral therapy for insomnia digital intervention with clinician support, OncoSleep. This online program includes six interactive, personalized weekly sessions featuring evidence-based techniques targeting psychophysiological hyperarousal and maladaptive conditioning, tailored for cancer survivors. Research study procedures include screening for eligibility in the general population and randomization into one of two arms: the digital CBT-I program or a waitlist control group. Insomnia severity (primary outcome), fatigue, sleep diary outcomes, psychological distress, and quality of life (secondary outcomes) will be assessed at baseline and post-intervention.