Pedro Pereira Rodrigues

Abstract

Abstract
Alzheimer’s disease (AD) has become a problem, owing to its high prevalence in an aging society with no treatment available after onset. However, early diagnosis is essential for preventive intervention to delay disease onset due to its slow progression. The current AD diagnostic methods are typically invasive and expensive, limiting their potential for widespread use. Thus, the development of biomarkers in available biofluids, such as blood, urine, and saliva, which enables low or non-invasive, reasonable, and objective evaluation of AD status, is an urgent task. Here, we reviewed studies that examined biomarker candidates for the early detection of AD. Some of the candidates showed potential biomarkers, but further validation studies are needed. We also reviewed studies for non-invasive biomarkers of AD. Given the complexity of the AD continuum, multiple biomarkers with machine-learning-classification methods have been recently used to enhance diagnostic accuracy and characterize individual AD phenotypes. Artificial intelligence and new body fluid-based biomarkers, in combination with other risk factors, will provide a novel solution that may revolutionize the early diagnosis of AD.

Abstract
Missing data can pose severe consequences in critical contexts, such as clinical research based on routinely collected healthcare data. This issue is usually handled with imputation strategies, but these tend to produce poor and biased results under the Missing Not At Random (MNAR) mechanism. A recent trend that has been showing promising results for MNAR is the use of generative models, particularly Variational Autoencoders. However, they have a limitation: the imputed values are the result of a single sample, which can be biased. To tackle it, an extension to the Variational Autoencoder that uses a partial multiple imputation procedure is introduced in this work. The proposed method was compared to 8 state-of-the-art imputation strategies, in an experimental setup with 34 datasets from the medical context, injected with the MNAR mechanism (10% to 80% rates). The results were evaluated through the Mean Absolute Error, with the new method being the overall best in 71% of the datasets, significantly outperforming the remaining ones, particularly for high missing rates. Finally, a case study of a classification task with heart failure data was also conducted, where this method induced improvements in 50% of the classifiers.

Abstract

American Academy of Sleep Medicine guidelines suggests that clinical prediction algorithms can be used to screen obstructive sleep apnea (OSA) patients without replacing polysomnography (PSG) – the gold standard.

Abstract