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Publications

Publications by LIAAD

2021

Selection underlies phenotypic divergence in the insular Azores woodpigeon

Authors
Andrade, P; Cataldo, D; Fontaine, R; Rodrigues, TM; Queiros, J; Neves, V; Fonseca, A; Carneiro, M; Goncalves, D;

Publication
ZOOLOGICA SCRIPTA

Abstract
The study of phenotypic evolution in island birds following colonization is a classic topic in island biogeography. However, few studies explicitly test for the role of selection in shaping trait evolution in these taxa. Here, we studied the Azores woodpigeon (Columba palumbus azorica) to investigate differences between island and mainland populations, between females and males, and interactions between geographical origin and sex, by using spectrophotometry to quantify plumage colour and linear measurements to examine external and skeletal morphology. We further tested if selection explains the observed patterns by comparing phenotypic differentiation to genome-wide neutral differentiation. Our findings are consistent with several predictions of morphological evolution in island birds, namely differences in bill, flight and leg morphology and coloration differences between island and mainland birds. Interestingly, some plumage and morphological traits that differ between females and males respond differently according to geographical origin. Sexual dimorphism in colour saturation is more pronounced in the mainland, but this is driven by selection on female plumage coloration. Differences in flight morphology between females and males are also more pronounced in the mainland, possibly to accommodate contrasting pressures between migration and flight displays. Overall, our results suggest that phenotypic differentiation between mainland and island populations leading to divergent sexual dimorphism patterns can arise from selection acting on both females and males on traits that are likely under the influence of natural and sexual selection.

2021

CMIID: A comprehensive medical information identifier for clinical search harmonization in Data Safe Havens

Authors
Domingues, MAP; Camacho, R; Rodrigues, PP;

Publication
JOURNAL OF BIOMEDICAL INFORMATICS

Abstract
Over the last decades clinical research has been driven by informatics changes nourished by distinct research endeavors. Inherent to this evolution, several issues have been the focus of a variety of studies: multi-location patient data access, interoperability between terminological and classification systems and clinical practice and records harmonization. Having these problems in mind, the Data Safe Haven paradigm emerged to promote a newborn architecture, better reasoning and safe and easy access to distinct Clinical Data Repositories. This study aim is to present a novel solution for clinical search harmonization within a safe environment, making use of a hybrid coding taxonomy that enables researchers to collect information from multiple repositories based on a clinical domain query definition. Results show that is possible to query multiple repositories using a single query definition based on clinical domains and the capabilities of the Unified Medical Language System, although it leads to deterioration of the framework response times. Participants of a Focus Group and a System Usability Scale questionnaire rated the framework with a median value of 72.5, indicating the hybrid coding taxonomy could be enriched with additional metadata to further improve the refinement of the results and enable the possibility of using this system as data quality tagging mechanism.

2021

Artificial Intelligence in Medicine - 19th International Conference on Artificial Intelligence in Medicine, AIME 2021, Virtual Event, June 15-18, 2021, Proceedings

Authors
Tucker, A; Abreu, PH; Cardoso, JS; Rodrigues, PP; Riaño, D;

Publication
AIME

Abstract

2021

Preface

Authors
Abreu, PH; Rodrigues, PP; Fernández, A; Gama, J;

Publication
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)

Abstract

2021

Enhancing Obstructive Sleep Apnea Diagnosis With Screening Through Disease Phenotypes: Algorithm Development and Validation

Authors
Ferreira Santos, D; Rodrigues, PP;

Publication
JMIR MEDICAL INFORMATICS

Abstract
Background: The American Academy of Sleep Medicine guidelines suggest that clinical prediction algorithms can be used in patients with obstructive sleep apnea (OSA) without replacing polysomnography, which is the gold standard. Objective: This study aims to develop a clinical decision support system for OSA diagnosis according to its standard definition (apnea-hypopnea index plus symptoms), identifying individuals with high pretest probability based on risk and diagnostic factors. Methods: A total of 47 predictive variables were extracted from a cohort of patients who underwent polysomnography. A total of 14 variables that were univariately significant were then used to compute the distance between patients with OSA, defining a hierarchical clustering structure from which patient phenotypes were derived and described. Affinity from individuals at risk of OSA phenotypes was later computed, and cluster membership was used as an additional predictor in a Bayesian network classifier (model B). Results: A total of 318 patients at risk were included, of whom 207 (65.1%) individuals were diagnosed with OSA (111, 53.6% with mild; 50, 24.2% with moderate; and 46, 22.2% with severe). On the basis of predictive variables, 3 phenotypes were defined (74/207, 35.7% low; 104/207, 50.2% medium; and 29/207, 14.1% high), with an increasing prevalence of symptoms and comorbidities, the latter describing older and obese patients, and a substantial increase in some comorbidities, suggesting their beneficial use as combined predictors (median apnea-hypopnea indices of 10, 14, and 31, respectively). Cross-validation results demonstrated that the inclusion of OSA phenotypes as an adjusting predictor in a Bayesian classifier improved screening specificity (26%, 95% CI 24-29, to 38%, 95% CI 35-40) while maintaining a high sensitivity (93%, 95% CI 91-95), with model B doubling the diagnostic model effectiveness (diagnostic odds ratio of 8.14). Conclusions: Defined OSA phenotypes are a sensitive tool that enhances our understanding of the disease and allows the derivation of a predictive algorithm that can clearly outperform symptom-based guideline recommendations as a rule-out approach for screening.

2021

Quality of life of parents with children with congenital abnormalities: a systematic review with meta-analysis of assessment methods and levels of quality of life

Authors
Rodrigues, MG; Soares, MM; Rodrigues, JD; Azevedo, LF; Rodrigues, PP; Areias, JC; Areias, ME;

Publication
QUALITY OF LIFE RESEARCH

Abstract
Purpose To quantify and understand how to assess the quality of life and health-related QoL of parents with children with congenital abnormalities. Methods We conducted a systematic review with meta-analysis. The search was carried out in 5 bibliographic databases and in ClinicalTrials.gov. No restriction on language or date of publication was applied. This was complemented by references of the studies found and studies of evidence synthesis, manual search of abstracts of relevant congresses/scientific meetings and contact with experts. We included primary studies (observational, quasi-experimental and experimental studies) on parents of children with CA reporting the outcome quality of life (primary outcome) of parents, independently of the intervention/exposure studied. Results We included 75 studies (35 observational non-comparatives, 31 observational comparatives, 4 quasi-experimental and 5 experimental studies). We identified 27 different QoL instruments. The two most frequently used individual QoL instruments were WHOQOL-Bref and SF-36. Relatively to family QoL tools identified, we emphasized PedsQL FIM, IOFS and FQOL. Non-syndromic congenital heart defects were the CA most frequently studied. Through the analysis of comparative studies, we verified that parental and familial QoL were impaired in this population. Conclusions This review highlights the relevance of assessing QoL in parents with children with CA and explores the diverse QoL assessment tools described in the literature. Additionally, results indicate a knowledge gap that can help to draw new paths to future research. It is essential to assess QoL as a routine in healthcare providing and to implement strategies that improve it.

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