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17 pages, 533 KiB  
Article
Factors Associated with Unplanned Hospital Readmission after Discharge: A Descriptive and Predictive Study Using Electronic Health Record Data
BioMedInformatics 2024, 4(1), 219-235; https://doi.org/10.3390/biomedinformatics4010014 - 12 Jan 2024
Viewed by 164
Abstract
Hospital readmission involves the unplanned emergency admission of patients within 30 days from discharge after the previous admission. According to the Canadian Health Institute (CIHI), 1 in 11 patients were readmitted within 30 days of leaving the hospital in 2021. In the USA, [...] Read more.
Hospital readmission involves the unplanned emergency admission of patients within 30 days from discharge after the previous admission. According to the Canadian Health Institute (CIHI), 1 in 11 patients were readmitted within 30 days of leaving the hospital in 2021. In the USA, nearly 20% of Medicare patients were readmitted after discharge, where the average cost of readmission was approximately USD 15,000, as reported by the Agency for Healthcare Research and Quality (AHQR) in 2018. To tackle this issue, we first conducted a descriptive analysis study to understand the risk factors associated with hospital readmission, and then we applied machine learning approaches to predict hospital readmission by using patients’ demographic and clinical data extracted from the Electronic Health Record of the MIMIC-III clinical database. The results showed that the number of previous admissions during the last 12 months, hyperosmolar imbalance and comorbidity index were the top three significant factors for hospital readmission. The predictive model achieved a performance of 95.6% AP and an AUC = 97.3% using the Gradient Boosting algorithm trained on all features. Full article
(This article belongs to the Special Issue Feature Papers in Computational Biology and Medicine)
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22 pages, 6434 KiB  
Article
An Explainable AI System for the Diagnosis of High-Dimensional Biomedical Data
BioMedInformatics 2024, 4(1), 197-218; https://doi.org/10.3390/biomedinformatics4010013 - 11 Jan 2024
Viewed by 220
Abstract
Typical state-of-the-art flow cytometry data samples typically consist of measures of 10 to 30 features of more than 100,000 cell “events”. Artificial intelligence (AI) systems are able to diagnose such data with almost the same accuracy as human experts. However, such systems face [...] Read more.
Typical state-of-the-art flow cytometry data samples typically consist of measures of 10 to 30 features of more than 100,000 cell “events”. Artificial intelligence (AI) systems are able to diagnose such data with almost the same accuracy as human experts. However, such systems face one central challenge: their decisions have far-reaching consequences for the health and lives of people. Therefore, the decisions of AI systems need to be understandable and justifiable by humans. In this work, we present a novel explainable AI (XAI) method called algorithmic population descriptions (ALPODS), which is able to classify (diagnose) cases based on subpopulations in high-dimensional data. ALPODS is able to explain its decisions in a form that is understandable to human experts. For the identified subpopulations, fuzzy reasoning rules expressed in the typical language of domain experts are generated. A visualization method based on these rules allows human experts to understand the reasoning used by the AI system. A comparison with a selection of state-of-the-art XAI systems shows that ALPODS operates efficiently on known benchmark data and on everyday routine case data. Full article
(This article belongs to the Section Computational Biology and Medicine)
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24 pages, 1137 KiB  
Review
Digital Pathology: A Comprehensive Review of Open-Source Histological Segmentation Software
BioMedInformatics 2024, 4(1), 173-196; https://doi.org/10.3390/biomedinformatics4010012 - 11 Jan 2024
Viewed by 219
Abstract
In the era of digitalization, the biomedical sector has been affected by the spread of artificial intelligence. In recent years, the possibility of using deep and machine learning methods for clinical diagnostic and therapeutic interventions has been emerging as an essential resource for [...] Read more.
In the era of digitalization, the biomedical sector has been affected by the spread of artificial intelligence. In recent years, the possibility of using deep and machine learning methods for clinical diagnostic and therapeutic interventions has been emerging as an essential resource for biomedical imaging. Digital pathology represents innovation in a clinical world that looks for faster and better-performing diagnostic methods, without losing the accuracy of current human-guided analyses. Indeed, artificial intelligence has played a key role in a wide variety of applications that require the analysis of a massive amount of data, including segmentation processes in medical imaging. In this context, artificial intelligence enables the improvement of image segmentation methods, moving towards the development of fully automated systems of analysis able to support pathologists in decision-making procedures. The aim of this review is to aid biologists and clinicians in discovering the most common segmentation open-source tools, including ImageJ (v. 1.54), CellProfiler (v. 4.2.5), Ilastik (v. 1.3.3) and QuPath (v. 0.4.3), along with their customized implementations. Additionally, the tools’ role in the histological imaging field is explored further, suggesting potential application workflows. In conclusion, this review encompasses an examination of the most commonly segmented tissues and their analysis through open-source deep and machine learning tools. Full article
(This article belongs to the Special Issue Feature Papers in Applied Biomedical Data Science)
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15 pages, 2649 KiB  
Review
Small Bowel Dose Constraints in Radiation Therapy—Where Omics-Driven Biomarkers and Bioinformatics Can Take Us in the Future
BioMedInformatics 2024, 4(1), 158-172; https://doi.org/10.3390/biomedinformatics4010011 - 11 Jan 2024
Viewed by 257
Abstract
Radiation-induced gastrointestinal (GI) dose constraints are still a matter of concern with the ongoing evolution of patient outcomes and treatment-related toxicity in the era of image-guided intensity-modulated radiation therapy (IMRT), stereotactic ablative radiotherapy (SABR), and novel systemic agents. Small bowel (SB) dose constraints [...] Read more.
Radiation-induced gastrointestinal (GI) dose constraints are still a matter of concern with the ongoing evolution of patient outcomes and treatment-related toxicity in the era of image-guided intensity-modulated radiation therapy (IMRT), stereotactic ablative radiotherapy (SABR), and novel systemic agents. Small bowel (SB) dose constraints in pelvic radiotherapy (RT) are a critical aspect of treatment planning, and prospective data to support them are scarce. Previous and current guidelines are based on retrospective data and experts’ opinions. Patient-related factors, including genetic, biological, and clinical features and systemic management, modulate toxicity. Omic and microbiome alterations between patients receiving RT to the SB may aid in the identification of patients at risk and real-time identification of acute and late toxicity. Actionable biomarkers may represent a pragmatic approach to translating findings into personalized treatment with biologically optimized dose escalation, given the mitigation of the understood risk. Biomarkers grounded in the genome, transcriptome, proteome, and microbiome should undergo analysis in trials that employ, R.T. Bioinformatic templates will be needed to help advance data collection, aggregation, and analysis, and eventually, decision making with respect to dose constraints in the modern RT era. Full article
(This article belongs to the Special Issue Feature Papers in Applied Biomedical Data Science)
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19 pages, 3789 KiB  
Article
Blood Pressure Estimation from Photoplythmography Using Hybrid Scattering–LSTM Networks
BioMedInformatics 2024, 4(1), 139-157; https://doi.org/10.3390/biomedinformatics4010010 - 09 Jan 2024
Viewed by 271
Abstract
One of the most significant indicators of heart and cardiovascular health is blood pressure (BP). Blood pressure (BP) has gained great attention in the last decade. Uncontrolled high blood pressure increases the risk of serious health problems, including heart attack and stroke. Recently, [...] Read more.
One of the most significant indicators of heart and cardiovascular health is blood pressure (BP). Blood pressure (BP) has gained great attention in the last decade. Uncontrolled high blood pressure increases the risk of serious health problems, including heart attack and stroke. Recently, machine/deep learning has been leveraged for learning a BP from photoplethysmography (PPG) signals. Hence, continuous BP monitoring can be introduced, based on simple wearable contact sensors or even remotely sensed from a proper camera away from the clinical setup. However, the available training dataset imposes many limitations besides the other difficulties related to the PPG time series as high-dimensional data. This work presents beat-by-beat continuous PPG-based BP monitoring while accounting for the aforementioned limitations. For a better exploration of beats’ features, we propose to use wavelet scattering transform as a better descriptive domain to cope with the limitation of the training dataset and to help the deep learning network accurately learn the relationship between the morphological shapes of PPG beats and the BP. A long short-term memory (LSTM) network is utilized to demonstrate the superiority of the wavelet scattering transform over other domains. The learning scenarios are carried out on a beat basis where the input corresponding PPG beat is used for predicting BP in two scenarios; (1) Beat-by-beat arterial blood pressure (ABP) estimation, and (2) Beat-by-beat estimation of the systolic and diastolic blood pressure values. Different transformations are used to extract the features of the PPG beats in different domains including time, discrete cosine transform (DCT), discrete wavelet transform (DWT), and wavelet scattering transform (WST) domains. The simulation results show that using the WST domain outperforms the other domains in the sense of root mean square error (RMSE) and mean absolute error (MAE) for both of the suggested two scenarios. Full article
(This article belongs to the Special Issue Feature Papers in Applied Biomedical Data Science)
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12 pages, 1733 KiB  
Article
Machine Learning Analysis of Genomic Factors Influencing Hyperbaric Oxygen Therapy in Parkinson’s Disease
BioMedInformatics 2024, 4(1), 127-138; https://doi.org/10.3390/biomedinformatics4010009 - 09 Jan 2024
Viewed by 267
Abstract
(1) Background: Parkinson’s disease (PD) is a progressively worsening neurodegenerative disorder affecting movement, mental well-being, sleep, and pain. While no cure exists, treatments like hyperbaric oxygen therapy (HBOT) offer potential relief. However, the molecular biology perspective, especially when intertwined with machine learning dynamics, [...] Read more.
(1) Background: Parkinson’s disease (PD) is a progressively worsening neurodegenerative disorder affecting movement, mental well-being, sleep, and pain. While no cure exists, treatments like hyperbaric oxygen therapy (HBOT) offer potential relief. However, the molecular biology perspective, especially when intertwined with machine learning dynamics, remains underexplored. (2) Methods: We employed machine learning techniques to analyze single-cell RNA-seq data from human PD cell samples. This approach aimed to identify pivotal genes associated with PD and understand their relationship with HBOT. (3) Results: Our analysis indicated genes such as MAP2, CAP2, and WSB1, among others, as being crucially linked with Parkinson’s disease (PD) and showed their significant correlation with Hyperbaric oxygen therapy (HBOT) indicatively. This suggests that certain genomic factors might influence the efficacy of HBOT in PD treatment. (4) Conclusions: HBOT presents promising therapeutic potential for Parkinson’s disease, with certain genomic factors playing a pivotal role in its efficacy. Our findings emphasize the need for further machine learning-driven research harnessing diverse omics data to better understand and treat PD. Full article
(This article belongs to the Special Issue Feature Papers in Medical Statistics and Data Science Section)
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14 pages, 4797 KiB  
Review
Interpretable Medical Imagery Diagnosis with Self-Attentive Transformers: A Review of Explainable AI for Health Care
by
BioMedInformatics 2024, 4(1), 113-126; https://doi.org/10.3390/biomedinformatics4010008 - 08 Jan 2024
Viewed by 325
Abstract
Recent advancements in artificial intelligence (AI) have facilitated its widespread adoption in primary medical services, addressing the demand–supply imbalance in healthcare. Vision Transformers (ViT) have emerged as state-of-the-art computer vision models, benefiting from self-attention modules. However, compared to traditional machine learning approaches, deep [...] Read more.
Recent advancements in artificial intelligence (AI) have facilitated its widespread adoption in primary medical services, addressing the demand–supply imbalance in healthcare. Vision Transformers (ViT) have emerged as state-of-the-art computer vision models, benefiting from self-attention modules. However, compared to traditional machine learning approaches, deep learning models are complex and are often treated as a “black box” that can cause uncertainty regarding how they operate. Explainable artificial intelligence (XAI) refers to methods that explain and interpret machine learning models’ inner workings and how they come to decisions, which is especially important in the medical domain to guide healthcare decision-making processes. This review summarizes recent ViT advancements and interpretative approaches to understanding the decision-making process of ViT, enabling transparency in medical diagnosis applications. Full article
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15 pages, 1208 KiB  
Article
Limitations of Protein Structure Prediction Algorithms in Therapeutic Protein Development
BioMedInformatics 2024, 4(1), 98-112; https://doi.org/10.3390/biomedinformatics4010007 - 08 Jan 2024
Viewed by 441
Abstract
The three-dimensional protein structure is pivotal in comprehending biological phenomena. It directly governs protein function and hence aids in drug discovery. The development of protein prediction algorithms, such as AlphaFold2, ESMFold, and trRosetta, has given much hope in expediting protein-based therapeutic discovery. Though [...] Read more.
The three-dimensional protein structure is pivotal in comprehending biological phenomena. It directly governs protein function and hence aids in drug discovery. The development of protein prediction algorithms, such as AlphaFold2, ESMFold, and trRosetta, has given much hope in expediting protein-based therapeutic discovery. Though no study has reported a conclusive application of these algorithms, the efforts continue with much optimism. We intended to test the application of these algorithms in rank-ordering therapeutic proteins for their instability during the pre-translational modification stages, as may be predicted according to the confidence of the structure predicted by these algorithms. The selected molecules were based on a harmonized category of licensed therapeutic proteins; out of the 204 licensed products, 188 that were not conjugated were chosen for analysis, resulting in a lack of correlation between the confidence scores and structural or protein properties. It is crucial to note here that the predictive accuracy of these algorithms is contingent upon the presence of the known structure of the protein in the accessible database. Consequently, our conclusion emphasizes that these algorithms primarily replicate information derived from existing structures. While our findings caution against relying on these algorithms for drug discovery purposes, we acknowledge the need for a nuanced interpretation. Considering their limitations and recognizing that their utility may be constrained to scenarios where known structures are available is important. Hence, caution is advised when applying these algorithms to characterize various attributes of therapeutic proteins without the support of adequate structural information. It is worth noting that the two main algorithms, AlfphaFold2 and ESMFold, also showed a 72% correlation in their scores, pointing to similar limitations. While much progress has been made in computational sciences, the Levinthal paradox remains unsolved. Full article
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9 pages, 178 KiB  
Editorial
Biomedical Informatics: State of the Art, Challenges, and Opportunities
BioMedInformatics 2024, 4(1), 89-97; https://doi.org/10.3390/biomedinformatics4010006 - 02 Jan 2024
Viewed by 411
Abstract
Biomedical informatics can be considered as a multidisciplinary research and educational field situated at the intersection of computational sciences (including computer science, data science, mathematics, and statistics), biology, and medicine. In recent years, there have been advances in the field of biomedical informatics. [...] Read more.
Biomedical informatics can be considered as a multidisciplinary research and educational field situated at the intersection of computational sciences (including computer science, data science, mathematics, and statistics), biology, and medicine. In recent years, there have been advances in the field of biomedical informatics. The current article highlights some interesting state-of-the-art research outcomes in these fields. These include research outcomes in areas like (i) computational biology and medicine, (ii) explainable artificial intelligence (XAI) in biomedical research and clinical practice, (iii) machine learning (including deep learning) methods and application for bioinformatics and healthcare, (iv) imaging informatics, as well as (v) medical statistics and data science. Moreover, the current article also discusses some existing challenges and potential future directions for these research areas to advance the fields of biomedical informatics. Full article
14 pages, 3802 KiB  
Article
The Bioinformatics Identification of Potential Protein Glycosylation Genes Associated with a Glioma Stem Cell Signature
BioMedInformatics 2024, 4(1), 75-88; https://doi.org/10.3390/biomedinformatics4010005 - 01 Jan 2024
Viewed by 286
Abstract
Glioma stem cells (GSCs) contribute to the pathogenesis of glioblastoma (GBM), which is the most malignant form of glioma. The implications and underlying mechanisms of protein glycosylation in GSC phenotypes and GBM malignancy are not fully understood. The implication of protein glycosylation and [...] Read more.
Glioma stem cells (GSCs) contribute to the pathogenesis of glioblastoma (GBM), which is the most malignant form of glioma. The implications and underlying mechanisms of protein glycosylation in GSC phenotypes and GBM malignancy are not fully understood. The implication of protein glycosylation and the corresponding candidate genes on the stem cell properties of GSCs and poor clinical outcomes in GBM were investigated, using datasets from the Gene Expression Omnibus, The Cancer Genome Atlas, and the Chinese Glioma Genome Atlas, accompanied by biological validation in vitro. N-linked glycosylation was significantly associated with GSC properties and the prognosis of GBM in the integrated bioinformatics analyses of clinical specimens. N-linked glycosylation was associated with the glioma grade, molecular biomarkers, and molecular subtypes. The expression levels of the asparagine-linked glycosylation (ALG) enzyme family, which is essential for the early steps in the biosynthesis of N-glycans, were prominently associated with GSC properties and poor survival in patients with GBM with high stem-cell properties. Finally, the oxidative phosphorylation pathway was primarily enriched in GSCs with a high expression of the ALG enzyme family. These findings suggest the role of N-linked glycosylation in the regulation of GSC phenotypes and GBM malignancy. Full article
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25 pages, 3665 KiB  
Article
Survey of Multimodal Medical Question Answering
BioMedInformatics 2024, 4(1), 50-74; https://doi.org/10.3390/biomedinformatics4010004 - 31 Dec 2023
Viewed by 446
Abstract
Multimodal medical question answering (MMQA) is a vital area bridging healthcare and Artificial Intelligence (AI). This survey methodically examines the MMQA research published in recent years. We collect academic literature through Google Scholar, applying bibliometric analysis to the publications and datasets used in [...] Read more.
Multimodal medical question answering (MMQA) is a vital area bridging healthcare and Artificial Intelligence (AI). This survey methodically examines the MMQA research published in recent years. We collect academic literature through Google Scholar, applying bibliometric analysis to the publications and datasets used in these studies. Our analysis uncovers the increasing interest in MMQA over time, with diverse domains such as natural language processing, computer vision, and large language models contributing to the research. The AI methods used in multimodal question answering in the medical domain are a prominent focus, accompanied by applicability of MMQA to the medical field. MMQA in the medical field has its unique challenges due to the sensitive nature of medicine as a science dealing with human health. The survey reveals MMQA research to be in an exploratory stage, discussing different methods, datasets, and potential business models. Future research is expected to focus on application development by big tech companies, such as MedPalm. The survey aims to provide insights into the current state of multimodal medical question answering, highlighting the growing interest from academia and industry. The identified research gaps and trends will guide future investigations and encourage collaborative efforts to advance this transformative field. Full article
(This article belongs to the Topic Computational Intelligence and Bioinformatics (CIB))
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16 pages, 1378 KiB  
Article
An Open-Access Dataset of Hospitalized Cardiac-Arrest Patients: Machine-Learning-Based Predictions Using Clinical Documentation
BioMedInformatics 2024, 4(1), 34-49; https://doi.org/10.3390/biomedinformatics4010003 - 27 Dec 2023
Viewed by 1096
Abstract
Cardiac arrest is a sudden loss of heart function with serious consequences. In developing countries, healthcare professionals use clinical documentation to track patient information. These data are used to predict the development of cardiac arrest. We published a dataset through open access to [...] Read more.
Cardiac arrest is a sudden loss of heart function with serious consequences. In developing countries, healthcare professionals use clinical documentation to track patient information. These data are used to predict the development of cardiac arrest. We published a dataset through open access to advance the research domain. While using this dataset, our work revolved around generating and utilizing synthetic data by harnessing the potential of synthetic data vaults. We conducted a series of experiments by employing state-of-the-art machine-learning techniques. These experiments aimed to assess the performance of our developed predictive model in identifying the likelihood of developing cardiac arrest. This approach was effective in identifying the risk of cardiac arrest in in-patients, even in the absence of electronic medical recording systems. The study evaluated 112 patients who had been transferred from the emergency treatment unit to the cardiac medical ward. The developed model achieved 96% accuracy in predicting the risk of developing cardiac arrest. In conclusion, our study showcased the potential of leveraging clinical documentation and synthetic data to create robust predictive models for cardiac arrest. The outcome of this effort could provide valuable insights and tools for healthcare professionals to preemptively address this critical medical condition. Full article
(This article belongs to the Section Methods in Biomedical Informatics)
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26 pages, 1730 KiB  
Article
Supporting the Demand on Mental Health Services with AI-Based Conversational Large Language Models (LLMs)
BioMedInformatics 2024, 4(1), 8-33; https://doi.org/10.3390/biomedinformatics4010002 - 22 Dec 2023
Viewed by 653
Abstract
The demand for psychological counselling has grown significantly in recent years, particularly with the global outbreak of COVID-19, which heightened the need for timely and professional mental health support. Online psychological counselling emerged as the predominant mode of providing services in response to [...] Read more.
The demand for psychological counselling has grown significantly in recent years, particularly with the global outbreak of COVID-19, which heightened the need for timely and professional mental health support. Online psychological counselling emerged as the predominant mode of providing services in response to this demand. In this study, we propose the Psy-LLM framework, an AI-based assistive tool leveraging large language models (LLMs) for question answering in psychological consultation settings to ease the demand on mental health professions. Our framework combines pre-trained LLMs with real-world professional questions-and-answers (Q&A) from psychologists and extensively crawled psychological articles. The Psy-LLM framework serves as a front-end tool for healthcare professionals, allowing them to provide immediate responses and mindfulness activities to alleviate patient stress. Additionally, it functions as a screening tool to identify urgent cases requiring further assistance. We evaluated the framework using intrinsic metrics, such as perplexity, and extrinsic evaluation metrics, including human participant assessments of response helpfulness, fluency, relevance, and logic. The results demonstrate the effectiveness of the Psy-LLM framework in generating coherent and relevant answers to psychological questions. This article discusses the potential and limitations of using large language models to enhance mental health support through AI technologies. Full article
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7 pages, 559 KiB  
Editorial
BioMedInformatics, the Link between Biomedical Informatics, Biology and Computational Medicine
BioMedInformatics 2024, 4(1), 1-7; https://doi.org/10.3390/biomedinformatics4010001 - 21 Dec 2023
Viewed by 389
Abstract
Welcome to BioMedInformatics (ISSN: 2673-7426) [...] Full article
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19 pages, 2823 KiB  
Article
Optimized FIR Filter Using Genetic Algorithms: A Case Study of ECG Signals Filter Optimization
BioMedInformatics 2023, 3(4), 1197-1215; https://doi.org/10.3390/biomedinformatics3040071 - 08 Dec 2023
Viewed by 459
Abstract
The advancement in technology and the availability of specialized digital signal processing chips have made digital filter design and implementation more feasible in a variety of fields, including biomedical engineering. This paper makes two key contributions. First, it uses a genetic algorithm to [...] Read more.
The advancement in technology and the availability of specialized digital signal processing chips have made digital filter design and implementation more feasible in a variety of fields, including biomedical engineering. This paper makes two key contributions. First, it uses a genetic algorithm to optimize the coefficients of finite impulse response (FIR) filters. Second, it conducts a case study on using genetic algorithms to optimize FIR filters for electrocardiogram (ECG) biomedical signal noise removal. The goal of the proposed filter design approach is to achieve the desired signal bandwidth while minimizing the side lobe level and eliminating unwanted signals using a genetic algorithm. The results of a comprehensive analysis show that the genetic algorithm-based filter is more effective than conventional filter designs in terms of noise removal efficiency. Full article
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