搜索结果：Trends in molecular medicine

With the increasing interest in deploying Artificial Intelligence in medicine, we previously introduced HAIM (Holistic AI in Medicine), a framework that fuses multimodal data to solve downstream clinical tasks. However, HAIM uses data in a task-agnostic manner and lacks explainability. To address these limitations, we introduce xHAIM (Explainable HAIM), a novel framework leveraging Generative AI to enhance both prediction and explainability through four structured steps: (1) automatically identifying task-relevant patient data across modalities, (2) generating comprehensive patient summaries, (3) using these summaries for improved predictive modeling, and (4) providing clinical explanations by linking predictions to patient-specific medical knowledge. Evaluated on the HAIM-MIMIC-MM dataset, xHAIM improves average AUC from 79.9% to 90.3% across chest pathology and operative tasks. Importantly, xHAIM transforms AI from a black-box predictor into an explainable decision support system, enabling clinicians to interactively trace predictions back to relevant patient data, bridging AI advancements with clinical utility.

Medicine, including fields in healthcare and life sciences, has seen a flurry of quantum-related activities and experiments in the last few years (although biology and quantum theory have arguably been entangled ever since Schrödinger's cat). The initial focus was on biochemical and computational biology problems; recently, however, clinical and medical quantum solutions have drawn increasing interest. The rapid emergence of quantum computing in health and medicine necessitates a mapping of the landscape. In this review, clinical and medical proof-of-concept quantum computing applications are outlined and put into perspective. These consist of over 40 experimental and theoretical studies. The use case areas span genomics, clinical research and discovery, diagnostics, and treatments and interventions. Quantum machine learning (QML) in particular has rapidly evolved and shown to be competitive with classical benchmarks in recent medical research. Near-term QML algorithms have been trained with diverse clinical and real-world data sets. This includes studies in generating new molecular entities as drug candidates, diagnosing based on medical image classification, predicting patient pe

This study examines the clinical decision-making processes in Traditional East Asian Medicine (TEAM) by reinterpreting pattern identification (PI) through the lens of dimensionality reduction. Focusing on the Eight Principle Pattern Identification (EPPI) system and utilizing empirical data from the Shang-Han-Lun, we explore the necessity and significance of prioritizing the Exterior-Interior pattern in diagnosis and treatment selection. We test three hypotheses: whether the Ext-Int pattern contains the most information about patient symptoms, represents the most abstract and generalizable symptom information, and facilitates the selection of appropriate herbal prescriptions. Employing quantitative measures such as the abstraction index, cross-conditional generalization performance, and decision tree regression, our results demonstrate that the Exterior-Interior pattern represents the most abstract and generalizable symptom information, contributing to the efficient mapping between symptom and herbal prescription spaces. This research provides an objective framework for understanding the cognitive processes underlying TEAM, bridging traditional medical practices with modern computat

Synthetic biology is a rapidly emerging research area, with expected wide-ranging impact in biology, nanofabrication, and medicine. A key technical challenge lies in embedding computation in molecular contexts where electronic micro-controllers cannot be inserted. This necessitates effective representation of computation using molecular components. While previous work established the Turing-completeness of chemical reactions, defining representations that are faithful, efficient, and practical remains challenging. This paper introduces CRN++, a new language for programming deterministic (mass-action) chemical kinetics to perform computation. We present its syntax and semantics, and build a compiler translating CRN++ programs into chemical reactions, thereby laying the foundation of a comprehensive framework for molecular programming. Our language addresses the key challenge of embedding familiar imperative constructs into a set of chemical reactions happening simultaneously and manipulating real-valued concentrations. Although some deviation from ideal output value cannot be avoided, we develop methods to minimize the error, and implement error analysis tools. We demonstrate the fe

Fictive associates are widely used to describe and model liquid phases with strong ordering trends. However, little evidence is known about the assumed associates in most cases. In the present work, an ab initio molecular dynamics (AIMD) study is employed to investigate the characters of the Ba-Bi liquid, in which associates have been assumed in existing thermodynamic modeling. It is found that in the Ba rich melt, the Bi atoms are almost completely surrounded by Ba atoms. The Bi-centered coordination polyhedrons are strongly associated to crystalline structures of Ba5Bi3 and Ba4Bi3 with a longer lifetime than other polyhedrons during the AIMD simulations. In addition, these Bi-centered polyhedrons in Ba rich melt connect with each other through vertex, edge, face, and/or bipyramid sharing to form medium range orders (MRO). In the Bi rich melt, the Ba-centered polyhedrons also form MROs, but they are both structurally and compositionally diverse with a shorter lifetime. These findings from AIMD study provide evidences that there exist a strongly ordering Ba4Bi3 associate and a weakly ordering BaBi3 associate in the Ba-Bi liquid. The predicted enthalpy of mixing in the liquid agrees

The last few years have seen rapid progress in transitioning quantum computing from lab to industry. In healthcare and life sciences, more than 40 proof-of-concept experiments and studies have been conducted; an increasing number of these are even run on real quantum hardware. Major investments have been made with hundreds of millions of dollars already allocated towards quantum applications and hardware in medicine. In addition to pharmaceutical and life sciences uses, clinical and medical applications are now increasingly coming into the picture. This chapter focuses on three key use case areas associated with (precision) medicine, including genomics and clinical research, diagnostics, and treatments and interventions. Examples of organizations and the use cases they have been researching are given; ideas how the development of practical quantum computing applications can be further accelerated are described.

The success of precision medicine requires computational models that can effectively process and interpret diverse physiological signals across heterogeneous patient populations. While foundation models have demonstrated remarkable transfer capabilities across various domains, their effectiveness in handling individual-specific physiological signals - crucial for precision medicine - remains largely unexplored. This work introduces a systematic pipeline for rapidly and efficiently evaluating foundation models' transfer capabilities in medical contexts. Our pipeline employs a three-stage approach. First, it leverages physiological simulation software to generate diverse, clinically relevant scenarios, particularly focusing on data-scarce medical conditions. This simulation-based approach enables both targeted capability assessment and subsequent model fine-tuning. Second, the pipeline projects these simulated signals through the foundation model to obtain embeddings, which are then evaluated using linear methods. This evaluation quantifies the model's ability to capture three critical aspects: physiological feature independence, temporal dynamics preservation, and medical scenario d

What does Artificial Intelligence (AI) have to contribute to health care? And what should we be looking out for if we are worried about its risks? In this paper we offer a survey, and initial evaluation, of hopes and fears about the applications of artificial intelligence in medicine. AI clearly has enormous potential as a research tool, in genomics and public health especially, as well as a diagnostic aid. It's also highly likely to impact on the organisational and business practices of healthcare systems in ways that are perhaps under-appreciated. Enthusiasts for AI have held out the prospect that it will free physicians up to spend more time attending to what really matters to them and their patients. We will argue that this claim depends upon implausible assumptions about the institutional and economic imperatives operating in contemporary healthcare settings. We will also highlight important concerns about privacy, surveillance, and bias in big data, as well as the risks of over trust in machines, the challenges of transparency, the deskilling of healthcare practitioners, the way AI reframes healthcare, and the implications of AI for the distribution of power in healthcare ins

New Mobile technologies have created a new social dimension where individuals can develop increased levels of their social awareness by keeping in touch with old friends, making new friends, dispense new data or product, and getting information in many more aspects of everyday lives, making one to become more knowledgeable which is very beneficial especially for students. Social networks, in particular enable users to share and discuss common interests and provide infrastructures for integrating various user experiences: synchronous and asynchronous communication, game-playing, sharing links and files. The trend of using social networks and social media to deliver and exchange knowledge could bring a new era of social learning in which learners make use all four language skills of reading, writing, listening and speaking. Unlike a traditional e-leaning paradigm with pre-defined curriculum and standard textbooks, social knowledge could be aggregated on demand, just in time, and in context of engaging challenges from social networks, making learning more exciting, social and, game-like experience. Social learning environment engages the learners in discussion, collaboration, explorat

The understanding of molecular cell biology requires insight into the structure and dynamics of networks that are made up of thousands of interacting molecules of DNA, RNA, proteins, metabolites, and other components. One of the central goals of systems biology is the unraveling of the as yet poorly characterized complex web of interactions among these components. This work is made harder by the fact that new species and interactions are continuously discovered in experimental work, necessitating the development of adaptive and fast algorithms for network construction and updating. Thus, the "reverse-engineering" of networks from data has emerged as one of the central concern of systems biology research. A variety of reverse-engineering methods have been developed, based on tools from statistics, machine learning, and other mathematical domains. In order to effectively use these methods, it is essential to develop an understanding of the fundamental characteristics of these algorithms. With that in mind, this chapter is dedicated to the reverse-engineering of biological systems. Specifically, we focus our attention on a particular class of methods for reverse-engineering, namely th

Introduction: Crohn's disease and ulcerative colitis, both under the umbrella of inflammatory bowel diseases (IBD), involve many distinct molecular processes. The difference in their molecular processes is studied by using the different genes involved in each disease, and it is explored further for drug targeting and drug repurposing. Methods: The initial set of genes was obtained by mining published literature and several curated databases. The identified genes were then subject to Systems and Network analysis to reveal their molecular processes and shed some light on their pathogenesis. Such methodologies have identified newer targets and drugs that can be repurposed. Results: We use a Systems and Network Medicine approach to understand the mechanism of actions of genes involved in IBD. From an initial set of genes mined from literature and curated databases, we used the Multi-Steiner Tree algorithm implemented within the CoVex systems medicine platform to expand each disease module by incorporating candidate genes with significant connections to the disease-related seed genes. Such expanded disease modules will identify a larger set of potential targets and drugs. We used the Cl

The function of the organism hinges on the performance of its information-processing networks, which convey information via molecular recognition. Many paths within these networks utilize molecular codebooks, such as the genetic code, to translate information written in one class of molecules into another molecular "language" . The present paper examines the emergence and evolution of molecular codes in terms of rate-distortion theory and reviews recent results of this approach. We discuss how the biological problem of maximizing the fitness of an organism by optimizing its molecular coding machinery is equivalent to the communication engineering problem of designing an optimal information channel. The fitness of a molecular code takes into account the interplay between the quality of the channel and the cost of resources which the organism needs to invest in its construction and maintenance. We analyze the dynamics of a population of organisms that compete according to the fitness of their codes. The model suggests a generic mechanism for the emergence of molecular codes as a phase transition in an information channel. This mechanism is put into biological context and demonstrated

Scientific and technological advances in medicine and systems biology have unequivocally shown that health and disease must be viewed in the context of the interplay among multiple molecular and environmental factors. Understanding the effects of cellular interconnection on disease progression may lead to the identification of novel disease genes and pathways, and hence influence precision diagnostics and therapeutics. To accomplish this goal, the emerging field of network medicine applies network science approaches to investigate disease pathogenesis, integrating information from relevant Omics databases, including protein-protein interaction, correlation-based, gene regulatory, and Bayesian networks. However, this requires analysing and computing large amounts of data. Moreover, if we are to efficiently search for new drugs and new drug combinations, there is a pressing need for computational methods that could allow us to access the immense chemical compound space until now largely unexplored. Finally, at the microscopic level, drug-target chemistry simulation is ultimately a quantum problem, and hence it requires a quantum solution. As we will discuss, quantum computing may be

The last decade has seen an explosion in models that describe phenomena in systems medicine. Such models are especially useful for studying signaling pathways, such as the Wnt pathway. In this chapter we use the Wnt pathway to showcase current mathematical and statistical techniques that enable modelers to gain insight into (models of) gene regulation, and generate testable predictions. We introduce a range of modeling frameworks, but focus on ordinary differential equation (ODE) models since they remain the most widely used approach in systems biology and medicine and continue to offer great potential. We present methods for the analysis of a single model, comprising applications of standard dynamical systems approaches such as nondimensionalization, steady state, asymptotic and sensitivity analysis, and more recent statistical and algebraic approaches to compare models with data. We present parameter estimation and model comparison techniques, focusing on Bayesian analysis and coplanarity via algebraic geometry. Our intention is that this (non exhaustive) review may serve as a useful starting point for the analysis of models in systems medicine.

Network medicine is an emerging area of research dealing with molecular and genetic interactions, network biomarkers of disease, and therapeutic target discovery. Large-scale biomedical data generation offers a unique opportunity to assess the effect and impact of cellular heterogeneity and environmental perturbations on the observed phenotype. Marrying the two, network medicine with biomedical data provides a framework to build meaningful models and extract impactful results at a network level. In this review, we survey existing network types and biomedical data sources. More importantly, we delve into ways in which the network medicine approach, aided by phenotype-specific biomedical data, can be gainfully applied. We provide three paradigms, mainly dealing with three major biological network archetypes: protein-protein interaction, expression-based, and gene regulatory networks. For each of these paradigms, we discuss a broad overview of philosophies under which various network methods work. We also provide a few examples in each paradigm as a test case of its successful application. Finally, we delineate several opportunities and challenges in the field of network medicine. Tak

Recent studies indicate that Generative Pre-trained Transformer 4 with Vision (GPT-4V) outperforms human physicians in medical challenge tasks. However, these evaluations primarily focused on the accuracy of multi-choice questions alone. Our study extends the current scope by conducting a comprehensive analysis of GPT-4V's rationales of image comprehension, recall of medical knowledge, and step-by-step multimodal reasoning when solving New England Journal of Medicine (NEJM) Image Challenges - an imaging quiz designed to test the knowledge and diagnostic capabilities of medical professionals. Evaluation results confirmed that GPT-4V performs comparatively to human physicians regarding multi-choice accuracy (81.6% vs. 77.8%). GPT-4V also performs well in cases where physicians incorrectly answer, with over 78% accuracy. However, we discovered that GPT-4V frequently presents flawed rationales in cases where it makes the correct final choices (35.5%), most prominent in image comprehension (27.2%). Regardless of GPT-4V's high accuracy in multi-choice questions, our findings emphasize the necessity for further in-depth evaluations of its rationales before integrating such multimodal AI m

Time-course high-throughput gene expression data are emerging in genomic and translational medicine. Extracting interesting time-course patterns from a patient cohort can provide biological insights for further clinical research and patient treatment. We propose principal trend analysis (PTA) to extract principal trends of time-course gene expression data from a group of patients, and identify genes that make dominant contributions to the principal trends. Through simulations, we demonstrate the utility of PTA for dimension reduction, time-course signal recovery and feature selection with high-dimensional data. Moreover, PTA derives new insights in real biological and clinical research. We demonstrate the usefulness of PTA by applying it to longitudinal gene expression data of a circadian regulation system and burn patients. These applications show that PTA can extract interesting time-course trends with biological significance, which helps the understanding of biological mechanisms of circadian regulation systems as well as the recovery of burn patients. Overall, the proposed PTA approach will benefit the genomic medicine research. Our method is implemented into an R-package: PTA

3D data from high-resolution volumetric imaging is a central resource for diagnosis and treatment in modern medicine. While the fast development of AI enhances imaging and analysis, commonly used visualization methods lag far behind. Recent research used extended reality (XR) for perceiving 3D images with visual depth perception and touch but used restrictive haptic devices. While unrestricted touch benefits volumetric data examination, implementing natural haptic interaction with XR is challenging. The research question is whether a multisensory XR application with intuitive haptic interaction adds value and should be pursued. In a study, 24 experts for biomedical images in research and medicine explored 3D medical shapes with 3 applications: a multisensory virtual reality (VR) prototype using haptic gloves, a simple VR prototype using controllers, and a standard PC application. Results of standardized questionnaires showed no significant differences between all application types regarding usability and no significant difference between both VR applications regarding presence. Participants agreed to statements that VR visualizations provide better depth information, using the hand

Molecular recognition, which is essential in processing information in biological systems, takes place in a crowded noisy biochemical environment and requires the recognition of a specific target within a background of various similar competing molecules. We consider molecular recognition as a transmission of information via a noisy channel and use this analogy to gain insights on the optimal, or fittest, molecular recognizer. We focus on the optimal structural properties of the molecules such as flexibility and conformation. We show that conformational changes upon binding, which often occur during molecular recognition, may optimize the detection performance of the recognizer. We thus suggest a generic design principle termed 'conformational proofreading' in which deformation enhances detection. We evaluate the optimal flexibility of the molecular recognizer, which is analogous to the stochasticity in a decision unit. In some scenarios, a flexible recognizer, i.e., a stochastic decision unit, performs better than a rigid, deterministic one. As a biological example, we discuss conformational changes during homologous recombination, the process of genetic exchange between two DNA s