Article
Cardiac & Cardiovascular Systems
Marit Kristine Smedsrud, Monica Chivulescu, Marianne Inngjerdingen Forsa, Isotta Castrini, Eivind Westrum Aabel, Christine Rootwelt-Norberg, Martin Proven Bogsrud, Thor Edvardsen, Nina Eide Hasselberg, Andreas Fruh, Kristina Hermann Haugaa
Summary: The study aimed to investigate the incidence of severe cardiac events in paediatric arrhythmogenic right ventricular cardiomyopathy (ARVC) patients and the ARVC penetrance in paediatric relatives. The results showed a high incidence of severe cardiac events in paediatric ARVC cohort, with half occurring in children aged 12 or below. Additionally, the ARVC penetrance in genotype positive paediatric relatives was 18%.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Katherine Giuliano, Paul Scheel, Eric Etchill, Charles D. Fraser, Alejandro Suarez-Pierre, Steven Hsu, Ilan S. Wittstein, Edward K. Kasper, Roberta Florido, Harikrishna Tandri, Hugh Calkins, Chun W. Choi, Kavita Sharma, Ahmet Kilic, Nisha A. Gilotra
Summary: This study analyzes national registry data and finds that the frequency of heart transplantation in ARVC patients has significantly increased over time. ARVC patients have higher survival rates after heart transplantation compared to patients with other cardiomyopathy etiologies. Additionally, ARVC patients generally have lower cardiovascular indicators compared to non-ARVC patients.
Review
Cardiac & Cardiovascular Systems
Sayed Al-Aidarous, Alexandros Protonotarios, Perry M. Elliott, Pier D. Lambiase
Summary: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by myocardial fibrofatty replacement due to specific mutations, resulting in ventricular arrhythmias and sudden cardiac death. Treating this condition is challenging due to fibrosis progression, phenotypic variations, and limited clinical trials. While beta-blockers are theoretically effective, their efficacy in reducing arrhythmic risk is not strong. Emerging evidence suggests that combining flecainide and bisoprolol may be effective. Radiofrequency ablation and stereotactic radiotherapy show potential in disrupting ventricular circuits and modifying myocardial fibrosis. Future therapies, such as adenoviruses and GSk3b modulation, are still in early-stage research. Implantable cardioverter-defibrillator implantation reduces arrhythmic death but comes with risks.
Article
Cardiac & Cardiovascular Systems
Nitin Malik, Monica Mukherjee, Katherine C. Wu, Stefan L. Zimmerman, Junzhen Zhan, Hugh Calkins, Cynthia A. James, Nisha A. Gilotra, Farooq H. Sheikh, Harikrishna Tandri, Shelby Kutty, Allison G. Hays
Summary: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare and heritable myocardial disease associated with serious cardiovascular complications and early cardiac sudden death. Multimodality imaging, including echocardiography and cardiac magnetic resonance imaging, plays a crucial role in the diagnosis and evaluation of ARVC. Echocardiography is a widely available and cost-effective technique, while cardiac magnetic resonance provides more comprehensive assessment of the structure and function. However, both imaging techniques have their limitations.
CIRCULATION-CARDIOVASCULAR IMAGING
(2022)
Article
Cardiac & Cardiovascular Systems
Shi Chen, Liang Chen, Ardan M. Saguner, Kai Chen, Deniz Akdis, Alessio Gasperetti, Corinna Brunckhorst, Hanwei Tang, Guangran Guo, Man Rao, Xiangjie Li, Jiangping Song, Firat Duru, Shengshou Hu
Summary: A novel risk prediction model for arrhythmogenic right ventricular cardiomyopathy has been developed using 2 large and well-established cohorts, incorporating common clinical parameters such as left ventricular ejection fraction, serum creatinine levels, tricuspid regurgitation, and atrial fibrillation, which can identify patients who are at risk for terminal HF events, and may guide physicians to assess individualized HF risk and to optimize management strategies.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Laurens P. Bosman, Weijia Wang, Oyvind H. Lie, Freyja H. M. van Lint, Christine Rootwelt-Norberg, Brittney Murray, Crystal Tichnell, Julia Cadrin-Tourigny, J. Peter van Tintelen, Folkert W. Asselbergs, Hugh Calkins, Anneline S. J. M. te Riele, Kristina H. Haugaa, Cynthia A. James
Summary: Exercise at diagnosis was found to be dose-dependently associated with the risk of sustained ventricular arrhythmias in patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), but only above a certain threshold. Adding athlete status to the ARVC risk calculator did not improve its accuracy.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Cinzia Monaco, Alessio Galli, Luigi Pannone, Antonio Bisignani, Vincenzo Miraglia, Anais Gauthey, Maysam Al Housari, Joerelle Mojica, Alvise Del Monte, Felicia Lipartiti, Sergio Rizzi, Sahar Mouram, Paul-Adrian Calburean, Robbert Ramark, Gudrun Pappaert, Ivan Eltsov, Gezim Bala, Antonio Sorgente, Ingrid Overeinder, Alexandre Almorad, Erwin Stroker, Juan Sieira, Pedro Brugada, Gian Battista Chierchia, Mark La Meir, Carlo de Asmundis
Summary: This case series reports the experience of thoracoscopic hybrid-approach endocardial and/or epicardial catheter ablation of ventricular arrhythmias (VAs) in drug-refractory arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. Despite a relatively high recurrence rate of VA, all patients experienced a significant reduction in arrhythmic burden after ablation, suggesting that a multidisciplinary approach may improve outcomes.
AMERICAN JOURNAL OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Yiju Luo, Xin Chen, Yuhua Zhang, Qianhuan Zhang, Fangzhou Liu, Guanhao Luo, Shulin Wu, Yumei Xue, Hai Deng, Fengyu Jiang, Zien Chen, Yang Liu, Hongtao Liao
Summary: In this study, a competing risk nomogram was developed and validated to predict cardiac death and heart transplantation in patients with arrhythmogenic right ventricular cardiomyopathy. The nomogram, based on four readily available clinical parameters (right atrial diameter, right and left ventricular ejection fraction, and T-wave inversion), is a potentially useful tool for individualized prognostic assessment.
Article
Cardiac & Cardiovascular Systems
Shehab Anwer, Francesca Guastafierro, Ladina Erhart, Sarah Costa, Deniz Akdis, Manuel Schuermann, Sara Hosseini, Neria E. Winkler, Nazar Kuzo, Alessio Gasperetti, Corinna Brunckhorst, Firat Duru, Ardan M. Saguner, Felix C. Tanner
Summary: This study examines right atrial (RA) deformation in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and its association with cardiovascular (CV) outcomes. The results show that ARVC patients exhibit impaired RA strain, and reservoir and pump strain are associated with an increased risk of CV events.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2022)
Article
Cardiac & Cardiovascular Systems
Laura Petruescu, Guillaume Lebreton, Guillaume Coutance, Carole Maupain, Veronique Fressart, Nicolas Badenco, Xavier Waintraub, Guillaume Duthoit, Mikael Laredo, Caroline Himbert, Francoise Hidden-Lucet, Pascal Leprince, Shaida Varnous, Estelle Gandjbakhch
Summary: This study explored the pretransplant course and outcomes of patients with arrhythmogenic right ventricular cardiomyopathy after heart transplantation. The findings suggest that advanced heart failure usually occurs late in the course of the disease, and primary graft dysfunction after heart transplantation is frequent and should be anticipated. Further research is needed to identify the optimal timing for heart transplantation and predictors of end-stage heart failure in patients with arrhythmogenic right ventricular cardiomyopathy.
ARCHIVES OF CARDIOVASCULAR DISEASES
(2023)
Article
Cardiac & Cardiovascular Systems
Paloma Jorda, Laurens P. Bosman, Alessio Gasperetti, Andrea Mazzanti, Jean-Baptiste Gourraud, Brianna Davies, Tanja Charlotte Frederiksen, Zoraida Moreno Weidmann, Andrea Di Marco, Jason D. Roberts, Ciorsti MacIntyre, Colette Seifer, Antoine Deliniere, Wael Alqarawi, Deni Kukavica, Damien Minois, Alessandro Trancuccio, Marine Arnaud, Mattia Targetti, Annamaria Martino, Giada Oliviero, Daniel C. Pipilas, Corrado Carbucicchio, Paolo Compagnucci, Antonio Dello Russo, Iacopo Olivotto, Leonardo Calo, Steven A. Lubitz, Michael J. Cutler, Philippe Chevalier, Elena Arbelo, Silvia Giuliana Priori, Jeffrey S. Healey, Hugh Calkins, Michela Casella, Henrik Kjaerulf Jensen, Claudio Tondo, Rafik Tadros, Cynthia A. James, Andrew D. Krahn, Julia Cadrin-Tourigny
Summary: This study validated a 5-year risk prediction model for ARVC patients, demonstrating its superior performance in guiding ICD implantation decisions compared to other published guidelines and consensus statements. The findings support the use of this model for shared decision making in the primary prevention of SCD in ARVC patients.
EUROPEAN HEART JOURNAL
(2022)
Article
Medicine, General & Internal
Karolina Borowiec, Olgierd Wozniak, Aleksandra Wrobel, Witold Smigielski, Urszula Skrzypczynska-Banasik, Ewa Kowalik, Anna Lutynska, Piotr Hoffman, Elzbieta K. Biernacka
Summary: This study aimed to identify predictors of end-stage heart failure and evaluate the role of biomarkers in predicting adverse outcomes in ARVC. The results showed that three factors, including NT-proBNP concentration, right ventricular end-diastolic area, and a history of atrial tachycardia, were identified as risk factors for death or HTx in ARVC. However, the biomarkers had no value in predicting ventricular arrhythmias.
POLISH ARCHIVES OF INTERNAL MEDICINE-POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ
(2023)
Article
Cardiac & Cardiovascular Systems
Ishan Lakhani, Jiandong Zhou, Sharen Lee, Ka Hou Christien Li, Keith Sai Kit Leung, Jeremy Man Ho Hui, Yan Hiu Athena Lee, Guoliang Li, Tong Liu, Wing Tak Wong, Ian Chi Kei Wong, Ngai Shing Mok, Chloe Miu Mak, Qingpeng Zhang, Gary Tse
Summary: Clinical and electrocardiographic parameters are important for assessing prognosis in ARVC/D patients and can aid risk stratification in the hospital setting.
REVIEWS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Paul J. Scheel, Katherine Giuliano, Crystal Tichnell, Cynthia James, Brittney Murray, Harikrishna Tandri, Debra Carter, Tracey Fehr, Priya Umapathi, Joban Vaishnav, Sabra C. Lewsey, Steven Hsu, Hugh Calkins, Kavita Sharma, Chun Woo Choi, Nisha A. Gilotra, Ahmet Kilic
Summary: Evaluation for heart transplantation in end-stage heart failure patients with arrhythmogenic right ventricular cardiomyopathy presents unique challenges due to frequent ventricular arrhythmias and predominantly right ventricular pathology. Unique considerations are required for these patients in terms of timing of evaluation, hemodynamic support options, and wait listing qualification.
Article
Cardiac & Cardiovascular Systems
Fernando Dominguez, Laura Lalaguna, Marina Lopez-Olaneta, Maria Villalba-Orero, Laura Padron-Barthe, Marta Roman, Elisabet Bello-Arroyo, Ana Briceno, Esther Gonzalez-Lopez, Javier Segovia-Cubero, Pablo Garcia-Pavia, Enrique Lara-Pezzi
Summary: The study revealed that preventive treatment with enalapril can improve the disease course of ARVC5 in mice, reducing fibrosis, improving ECG and echocardiographic parameters, and increasing survival. However, early treatment with metoprolol did not show positive effects.
CIRCULATION-HEART FAILURE
(2021)
Article
Biology
Joao Rafael Almeida, Diogo Pratas, Jose Luis Oliveira
Summary: Privacy issues hinder the analysis and collaboration of most distributed and private biobanks, posing a barrier to addressing health challenges. A proposed semi-automatic methodology allows for unified genomic studies using distributed repositories, ensuring privacy in the process.
COMPUTERS IN BIOLOGY AND MEDICINE
(2021)
Review
Computer Science, Software Engineering
Arnaldo Pereira, Alina Trifan, Rui Pedro Lopes, Jose Luis Oliveira
Summary: As the number of semantic data repositories on the web grows, challenges in efficiently exploiting these resources have emerged. Using question answering systems to provide user-friendly interfaces is a proposed solution to this difficulty. A systematic review of methods and systems for KBQAs can help identify their main advantages and limitations.
Article
Biology
Nelson R. C. Monteiro, Jose L. Oliveira, Joel P. Arrais
Summary: The accurate identification of DTIs is crucial in drug discovery. Most existing methods focus on binary classification and neglect unbiased binding strength values. This study proposes an end-to-end Transformer-based approach that effectively predicts drug-target binding affinity, outperforming current baselines in both accurately predicting interaction strength and discriminating binding strength rank order. The combination of multiple Transformer-Encoders results in robust and discriminative aggregate representations, with the addition of a Cross-Attention Transformer-Encoder identified as an important component for improved discriminative power. Overall, this research validates the applicability of an end-to-end Transformer-based architecture in drug discovery.
COMPUTERS IN BIOLOGY AND MEDICINE
(2022)
Article
Chemistry, Multidisciplinary
Maryam Abbasi, Beatriz P. Santos, Tiago C. Pereira, Raul Sofia, Nelson R. C. Monteiro, Carlos J. Simoes, Rui Brito, Bernardete Ribeiro, Jose L. Oliveira, Joel P. Arrais
Summary: Drug design is an important field in pharmaceutical businesses, but faces challenges such as low efficacy, off-target delivery, time consumption, and high cost. This study proposes a framework based on Deep Learning and Feedback Generative Adversarial Network (GAN) to generate drug-like molecules tailored to specific needs. The framework incorporates Encoder-Decoder, GAN, and Predictor models interconnected with a feedback loop to optimize molecule generation. The results show that the proposed framework can generate realistic and novel molecules with desired properties in the chemical space.
JOURNAL OF CHEMINFORMATICS
(2022)
Article
Computer Science, Interdisciplinary Applications
Arnaldo Pereira, Joao Rafael Almeida, Rui Pedro Lopes, Jose Luis Oliveira
Summary: This study proposes a strategy for retrieving semantically annotated biomedical datasets using a natural language interface. The method converts data to a semantic format using open biomedical ontologies and enables users to issue complex queries without using formal query languages. The approach was validated using Alzheimer's disease datasets, and the performance and limitations of the question-answering module were analyzed.
JOURNAL OF BIOMEDICAL INFORMATICS
(2023)
Article
Biology
Olga Fajarda, Joao Rafael Almeida, Sara Duarte-Pereira, Raquel M. Silva, Jose Luis Oliveira
Summary: A large amount of microarray datasets have been produced to identify differentially expressed genes and gene expression signatures, which can contribute to disease diagnosis, prognosis, and therapeutic response. However, most datasets have limited statistical power due to their small sample sizes. To address this issue, we propose a methodology that merges microarray datasets and uses statistical methods along with supervised machine learning algorithms to identify gene expression signatures. This methodology has been validated in heart failure and autism spectrum disorder datasets, achieving high classification accuracy.
COMPUTERS IN BIOLOGY AND MEDICINE
(2023)
Article
Mathematical & Computational Biology
Sara Duarte-Pereira, Sergio Matos, Jose Luis Oliveira, Raquel M. Silva
Summary: The study aimed to identify NAD-binding and NAD-interacting proteins and explore novel proteins and functions regulated by NAD. Datasets of NAD-binding proteins and NAD-protein-protein interactions were defined using experimental databases. Pathway enrichment analysis revealed their involvement in metabolic and signaling pathways, including neurodegenerative disorders. TRPC3 and isoforms of DAG kinases were identified as potential NADBPs involved in calcium signaling. Potential therapeutic targets interacting with NAD were also identified, with regulatory and signaling functions in cancer and neurodegenerative diseases.
JOURNAL OF INTEGRATIVE BIOINFORMATICS
(2023)
Article
Biology
Nelson R. C. Monteiro, Tiago O. Pereira, Ana Catarina D. Machado, Jose L. Oliveira, Maryam Abbasi, Joel P. Arrais
Summary: This study proposes a multi-objective Transformer-based architecture for generating drug candidates with desired molecular properties and increased selectivity towards a specific biological target. The results demonstrate that the proposed architecture can generate novel and synthesizable small compounds with desired pharmacological properties. Overall, this research study validates the applicability of a Transformer-based architecture in the context of drug design. Rating: 8/10.
COMPUTERS IN BIOLOGY AND MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Jose M. Inacio, Fernando Cristo, Miguel Pinheiro, Francisco Vasques-Novoa, Francisca Saraiva, Mafalda M. Nunes, Graca Rosas, Andreia Reis, Rita Coimbra, Jose Luis Oliveira, Gabriela Moura, Adelino Leite-Moreira, Jose Antonio Belo
Summary: In this study, RNA sequencing was performed on myocardial biopsies from heart failure patients with preserved ejection fraction (HFpEF) to identify distinctive transcriptomic signatures. A total of 306 differentially expressed mRNAs and 152 differentially expressed microRNAs were identified, revealing potential therapeutic targets and mechanisms underlying HFpEF.
Article
Computer Science, Information Systems
Dinis Barroqueiro Cruz, Joao Rafael Almeida, Jose Luis Oliveira
Summary: This article introduces three main approaches to application security: Static Application Security Testing (SAST), Dynamic Application Security Testing (DAST), and Software Composition Analysis (SCA). It proposes a baseline comparison model to help select the best solutions and discusses future opportunities and challenges in application security. A workflow for vulnerability assessment is also proposed.
Article
Health Care Sciences & Services
Arnaldo Pereira, Joao Rafael Almeida, Rui Pedro Lopes, Jose Luis Oliveira
Summary: Biomedical databases often have restricted access policies and governance rules. Describing their content adequately is crucial for researchers who want to use them for medical research. Semantic data visualisation techniques can assist in comparing descriptive metadata from multiple databases, streamlining the database selection process.
Proceedings Paper
Computer Science, Information Systems
Alina Yanchuk, Alina Trifan, Olga Fajarda, Jose Luis Oliveira
Summary: This project explores the use of Artificial Intelligence and Natural Language Processing techniques to automatically classify stigmatizing articles related to schizophrenia and psychosis. Multiple algorithms were implemented and the results confirmed the presence of stigma in Portuguese newspapers, particularly in Economics and Politics-related news.
NEW TRENDS IN DATABASE AND INFORMATION SYSTEMS, ADBIS 2022
(2022)
Proceedings Paper
Computer Science, Information Systems
Arnaldo Pereira, Joao Rafael Almeida, Rui Pedro Lopes, Jose Luis Oliveira
Summary: Medical studies play a crucial role in improving medical care services, and selecting appropriate datasets is essential in observational studies. This paper proposes two visualization methods for better understanding the evolution of clinical register data.
2022 IEEE 35TH INTERNATIONAL SYMPOSIUM ON COMPUTER-BASED MEDICAL SYSTEMS (CBMS)
(2022)
Proceedings Paper
Computer Science, Information Systems
Joao Rafael Almeida, Luis Bastiao Silva, Alejandro Pazos, Jose Luis Oliveira
Summary: This study proposes a method to centralize different datasets into the tranSMART application, using a harmonizing strategy based on standard data schema. This methodology helps researchers generate evidence from a wider variety of data sources. The validation of this proposal was done using Alzheimer's Disease cohorts from several countries.
2022 IEEE 35TH INTERNATIONAL SYMPOSIUM ON COMPUTER-BASED MEDICAL SYSTEMS (CBMS)
(2022)
Proceedings Paper
Computer Science, Information Systems
Joao Rafael Almeida, Joao Paulo Barraca, Jose Luis Oliveira
Summary: This paper proposes a secure architecture for exploring distributed databases without compromising patient privacy. The proposed architecture is based on interoperable repositories supported by a common data model.
2022 IEEE 35TH INTERNATIONAL SYMPOSIUM ON COMPUTER-BASED MEDICAL SYSTEMS (CBMS)
(2022)
