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NeuroOmics-Net: An interpretable multimodal deep learning framework for Alzheimer's disease diagnosis and progression prediction using neuroimaging, EEG, and genomic data.

Accurate diagnosis and progression prediction of Alzheimer's disease (AD) remain challenging due to the heterogeneous nature of the disease, which involves structural brain degeneration, electrophysiological dysfunction, and molecular dysregulation. Most existing deep learning approaches rely on a single modality or limited multimodal combinations, thereby failing to capture the complex cross-domain interactions underlying AD progression. Furthermore, the scarcity of large-scale datasets containing synchronized neuroimaging, electrophysiological, and genomic measurements restricts the development of comprehensive multimodal diagnostic systems. To address these challenges, this study proposes NeuroOmics-Net, a multimodal deep learning framework for Alzheimer's disease analysis that integrates structural magnetic resonance imaging (sMRI), electroencephalography (EEG), and gene expression data. The proposed framework combines a Hierarchical Multi-View Encoder (HME) for modality-specific feature extraction, a Cross-Omics Attention Fusion (CAF) module for adaptive integration of complementary biomarkers, and a Disease Progression Graph Learning (DPGL) module for modeling progression-related relationships across biological domains. To facilitate cross-modal integration from independent cohorts, Regularized Canonical Correlation Analysis (RCCA) is employed to align heterogeneous feature representations within a shared latent space. Experiments were conducted using publicly available datasets from ADNI, PhysioNet, and GEO repositories comprising 1120 diagnosis-aligned samples. The proposed framework achieved 94.3% classification accuracy and an AUC of 0.975 for distinguishing normal controls (NC), mild cognitive impairment (MCI), and Alzheimer's disease subjects, while attaining 93.7% accuracy for predicting conversion from stable mild cognitive impairment (sMCI) to progressive mild cognitive impairment (pMCI). However, a fairness sensitivity analysis using stratified demographic reweighting revealed accuracy ranging from 90.8% (low-education, high-comorbidity proxy subgroup) to 96.1% (low-risk, high-reserve proxy subgroup), a demographic parity gap of 5.3 percentage points, indicating that overall accuracy reflects a performance ceiling in a relatively homogeneous research cohort rather than a realistic estimate for demographically diverse clinical populations. Comparative evaluations demonstrated consistent improvements over state-of-the-art unimodal and multimodal deep learning models. Interpretability analysis further identified clinically relevant biomarkers, including hippocampal and entorhinal atrophy, theta-alpha EEG alterations, and APOE-associated molecular pathways. Because sMRI, EEG, and gene expression data were sourced from separate, unpaired cohorts with no subjects possessing all three synchronized measurements, all reported cross-modal associations reflect population-level statistical correspondence across diagnosis-matched groups rather than within-subject physiological coupling; no claim of intra-individual causal cross-modal interaction is made. These findings demonstrate that NeuroOmics-Net provides an effective computer-aided framework for multimodal biomedical data processing and Alzheimer's disease analysis. By integrating neuroimaging, electrophysiological, and genomic information, the proposed approach enables accurate diagnosis, progression prediction, and biologically interpretable decision support for clinical and translational applications.

Humans

An individualized nomogram for predicting progression-free survival in systemic anaplastic large cell lymphoma: a multicenter, retrospective, and internally validated study.

OBJECTIVES: To develop an individualized nomogram for predicting disease progression risk in systemic anaplastic large cell lymphoma (sALCL). METHODS: Independent predictors of progression-free survival (PFS) were identified using Cox regression in a multicenter retrospective cohort of 109 sALCL patients (2010-2022). These were incorporated into a three-factor nomogram, evaluated via bootstrapped internal validation (1000 resamples), ROC analysis, C-index, decision curve analysis (DCA), and clinical impact curve (CIC). RESULTS: A total of 29 PFS events occurred during a median follow-up of 31 months. Multivariable modelling selected serum β2-microglobulin elevation, extranodal disease, and front-line chemotherapy choice (CHOP versus CHOPE or BV+CHP) as autonomous progression drivers. Upon internal bootstrap validation, the nomogram yielded strong prognostic accuracy, achieving AUCs of 0.81, 0.85 and 0.87 for 1-, 3- and 5-year progression-free survival, alongside a corrected C-index of 0.779 (95% CI: 0.699 - 0.861). Calibration plots showed close agreement between predicted and observed outcomes, while DCA confirmed superior net clinical benefit versus conventional IPI or Ann Arbor stratification across multiple decision thresholds. CONCLUSION: This first sALCL-specific nomogram integrates clinical and treatment variables to provide personalized PFS risk estimation. While internally validated, this exploratory, observation-based tool requires external validation and recalibration in prospective cohorts before clinical implementation.

Humans

HPV circulating tumor DNA as a potential prognostic and predictive biomarker in head and neck squamous cell carcinoma: a systematic review.

PURPOSE: Human papillomavirus circulating tumor DNA (HPVctDNA) has emerged as a promising prognostic biomarker in HPV-related head and neck squamous cell carcinoma (HNSCC). This systematic review aimed to synthesize current evidence on the diagnostic accuracy and prognostic value of HPVctDNA in HNSCC management. MATERIAL/METHODS: We systematically reviewed a PubMed-indexed database of studies published between January 2012 and September 2025. Eligible studies were assessed for design, primary tumor site and stage, treatment modality, HPVctDNA detection method, diagnostic accuracy (sensitivity and specificity), and reported clinical endpoints. Descriptive syntheses were performed; sensitivity and specificity were standardized to proportions and summarized as median values per group. RESULTS: A total of 60 studies, including 8,234 patients were analyzed, of which 41 (68.3%) focused exclusively on oropharyngeal squamous cell carcinoma (OPSCC) and 17 (28.3%) included mixed HPV-related HNSCC subsites and HPV-positive cancers of unknown primary. The median follow-up across the included studies was 23 months. Among the included studies, 19 were retrospective (31.7%) and 33 were prospective (55.0%), with a small proportion of cross-sectional and randomized clinical trials. Overall, 40 (66.7%) evaluated the role of HPVctDNA in a curative setting. Plasma was the most common sample type, analyzed in 55 studies (91.7%), while 5 studies also included saliva. Detection methods varied: 40 employed droplet digital PCR (ddPCR), 16 used quantitative PCR (qPCR) and 4 applied NGS-based assays. Most of these studies (38, 63.3%) evaluated the prognostic utility of HPVctDNA, while only 4 (6.7%) assessed HPVctDNA in a screening or diagnostic setting. Regarding diagnostic accuracy, the median sensitivity across evaluable studies was 91.1%, while the median specificity was 99.4%. In OPSCC-only cohorts, the median sensitivity and specificity were 89.4% and 99.4%, respectively. Dynamic changes in HPVctDNA levels during or after treatment were consistently associated with outcomes: clearance or sustained negativity correlated with higher response rates, improved progression-free survival and overall survival, while persistent positivity or increasing levels predicted disease progression and recurrence. CONCLUSIONS: HPVctDNA demonstrates high diagnostic and prognostic accuracy in HPV-related HNSCC, especially OPSCC, supporting its use for prognosis, treatment monitoring and early detection of recurrence. However, prospective interventional studies are still required to demonstrate that HPVctDNA-guided treatment decisions improve clinical outcomes before routine implementation.

Humans

Research progress and application prospects of multi-omics integration strategies in precision risk stratification of type 1 diabetes mellitus.

Type 1 diabetes (T1D) is a chronic metabolic disease mediated by autoimmunity. Its pathogenesis involves complex interactions between genetic susceptibility and environmental factors. Conventional T1D risk stratification primarily relies on genetic markers, islet autoantibodies, and glycemic indicators. Although these biomarkers remain indispensable in current clinical practice, they are often insufficient when used alone to accurately identify ultra-early high-risk individuals, predict disease progression rates, or support individualized preventive strategies. Consequently, more comprehensive molecular approaches are needed to improve precision risk stratification. In recent years, the rapid development of multi-omics technologies has provided new strategies for precise risk stratification of T1D. This narrative review critically evaluates how multi-omics integration strategies can improve precision risk stratification throughout the T1D disease continuum by integrating complementary molecular information from genomics, transcriptomics, proteomics, metabolomics, epigenomics, and the microbiome. Particular emphasis is placed on stage-specific biomarker discovery, multi-omics data integration frameworks, artificial intelligence-assisted prediction models, biomarker validation, and the opportunities and challenges associated with clinical translation. Current evidence suggests that integrated multi-omics approaches have the potential to improve risk prediction accuracy, distinguish heterogeneous disease trajectories, identify individuals at imminent risk of progression, and provide biologically informed targets for precision intervention. However, important challenges remain, including data harmonization, external validation, model interpretability, cost-effectiveness, and integration into routine clinical screening programs. Future research should prioritize prospective multicenter cohorts, standardized analytical pipelines, externally validated prediction models, and clinically interpretable multi-omics frameworks to facilitate the translation of precision risk stratification into routine T1D prevention and management.

Humans

Pathogenesis of psoriasis and psoriatic arthritis: Insights from animal models and single-cell and spatial transcriptomic analyses of skin, synovium and entheses.

Psoriasis (PsO) and psoriatic arthritis (PsA) are immune-mediated diseases characterized by chronic systemic inflammation, including inflammation of the skin and joints. Recent advances in animal models, single-cell transcriptomics, spatial transcriptomics, and proteomics have greatly enhanced our understanding of disease pathogenesis. Mouse models exhibit key features of skin and joint inflammation, facilitating analysis of molecular pathways, and identification of therapeutic targets. Single-cell and spatial transcriptomic analyses have revealed cell-type-specific contributions to inflammation, highlighting interactions between keratinocytes, T cells, fibroblasts, and dendritic cells that drive psoriatic pathology. In psoriatic synovium, type 17 tissue-resident memory T cells, monocytes, and fibroblasts contribute to local inflammation and joint damage, whereas the roles of B cells and plasma cells are less clear. Proteomic and metabolomic profiling in patients with PsA has identified circulating protein signatures and metabolites associated with disease progression, sex-specific differences, and response to therapy. The integration of these multiomic approaches provides a detailed map of immune-stromal-epithelial crosstalk across skin, synovium, and entheses, uncovering mechanisms that were previously inaccessible. These insights have implications for predicting disease progression, identifying novel therapeutic targets, and optimizing treatment strategies. Collectively, advances in animal models and multiomic profiling are reshaping our understanding of PsO and PsA, providing a framework for future research, disease monitoring, and therapeutic development.

Animals

Estrogen Receptor, GATA-3, TTF-1, and KRAS in Endometrial Carcinoma of No Specific Molecular Profile: Prognostic or Diagnostic Markers?

Endometrial carcinoma with no specific molecular profile (NSMP) is a clinicopathologically heterogeneous group of diseases with an overall intermediate prognosis. Prognostic refinement is needed for better personalized treatment. The updated European Society of Gynecological Oncology-European Society for Radiotherapy and Oncology-European Society of Pathology guidelines for endometrial carcinoma stratify NSMP according to histotype and estrogen receptor (ER) status. ER (with other ancillary markers) also helps differentiate histotypes of endometrial carcinoma. This study describes clinicopathological characteristics of ER-positive and -negative-NSMP endometrial carcinoma. Furthermore, we investigate the prognostic and diagnostic significance of ER, GATA3, TTF1, and KRAS in a large and relatively unselected NSMP carcinoma cohort. POLE sequencing results and immunohistochemistry for p53, mismatch repair proteins, and ER were available for 930 samples of endometrial carcinoma. Within NSMP cases (n = 377), 22 samples presented ER staining in <1% of the carcinoma cells, 5 cases in 1% to 9%, and 350 cases in &#x2265;10%. ER expression &#x2265;10% predicted an excellent outcome (comparable with POLE-mutated cases) in univariable analysis, where ER negativity (<10%) was associated with a poor outcome (comparable with p53 abnormal cases). Most ER-positive NSMP cases were low-grade endometrioid carcinomas, whereas most ER-negative NSMP cases were nonendometrioid or high-grade endometrioid carcinomas. In addition to high-risk histotype, ER negativity was associated with various other clinicopathological risk factors. In multivariable analysis adjusting for histotype and other risk factors, ER did not independently predict disease progression (P = .814). No disease-related deaths were observed in the rare (n = 3) patients with ER-negative-low-grade endometrioid carcinoma. GATA3/TTF1 positivity and KRAS mutation were discovered not only in mesonephric-like carcinoma but also in endometrioid carcinoma. No prognostic relevance was found for these markers. In conclusion, the different prognosis of ER-positive vs ER-negative-NSMP endometrial carcinoma is not attributable to ER status itself but rather to its strong correlation with histotype and other clinicopathological risk factors. Limited specificity of GATA3, TTF1, and KRAS warrants caution in their use as diagnostic markers of mesonephric-like carcinoma.

Humans

Omics in hereditary optic neuropathies: A systematic review of clinical studies with an integrated point of view.

Hereditary optic neuropathies are characterized by bilateral visual loss due to the degeneration of retinal ganglion cells, resulting in optic nerve degeneration and atrophy. Although the genetic origin of the main isolated and syndromic hereditary optic neuropathies has been characterized, the clinical phenotypes exhibit significant and poorly understood variability in both penetrance and expressivity. Additionally, the genetic and environmental factors that influence the onset of these optic neuropathies remain poorly understood, with limited biomarkers to predict disease progression or as readouts for therapeutic trials. Data-driven omics strategies allow deep phenotyping to improve our understanding of pathophysiological mechanisms and to search for new biomarkers and therapeutic targets. We explore whether the omics strategies applied to patients with hereditary optic neuropathies have provided such new insights. MEDLINE, Web of Science and EMBASE databases were screened for studies with terms relating to hereditary optic neuropathies, transcriptomics, epigenomics, proteomics, metabolomics and lipidomics in clinical studies exploring patients' samples. Out of 1244 references identified, 22 articles were included after double-masked data curation. These articles focused only on the 3 main forms of hereditary optic neuropathies, namely, OPA1-related dominant optic atrophy (n&#x202f;=&#x202f;4), Leber hereditary optic neuropathy (n&#x202f;=&#x202f;13), and Wolfram syndrome (n&#x202f;=&#x202f;5). While the methodological designs and results of these studies were highly heterogeneous, they revealed molecular alterations that we have attempted to discuss at the integrated multi-omics level. This data integration highlighted several common pathophysiological mechanisms such as energetic impairment, endoplasmic reticulum stress, proteotoxic and oxidative stresses, lipid remodeling and altered amino acid and purine metabolisms, while suggesting potential new biomarkers and therapeutic targets. These findings underscore the potential of integrated multi-omics approaches to deepen our understanding of the phenotypic complexity of hereditary optic neuropathies and to support the development of innovative diagnostic and therapeutic strategies.

Humans

Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.

BACKGROUND: Rare pathogenic variants in telomere-related genes are associated with poorer clinical outcomes in idiopathic pulmonary fibrosis (IPF). We aimed to assess whether rare qualifying variants in monogenic adult-onset pulmonary fibrosis genes are associated with IPF survival. Using polygenic risk scores (PRS), we also evaluated the influence of common IPF risk variants in patients carrying the qualifying variants. METHODS: We identified qualifying variants in telomere and non-telomere genes using whole-genome sequences from individuals clinically diagnosed with IPF and enrolled in the Pulmonary Fibrosis Foundation Patient Registry (PFFPR), a large multicentre, observational cohort study (March 29, 2016 to June 15, 2018, n=888). We also derived a PRS for IPF (PRS-IPF) from known common sentinel IPF variants. The primary outcome was the association between qualifying variants and survival. The secondary outcome was the association between qualifying variants and PRS-IPF. We used logistic regression models adjusted for sex, age at diagnosis, and principal components of genetic heterogeneity to examine the mutual relationship of qualifying variants and PRS-IPF. The association between qualifying variants and PRS-IPF with survival was tested using Cox proportional hazard models adjusted for baseline confounders. Validation of the results was sought in data from an independent multicentre, prospective, observational cohort study of IPF in the UK (PROFILE, May 17, 2010 to Sept 5, 2017, n=472), and results were meta-analysed under a fixed-effects model. FINDINGS: We included 888 patients from PFFPR and 472 from PROFILE, totalling 1360 participants. In the PFFPR, carriers of qualifying variants in monogenic adult-onset pulmonary fibrosis genes were associated with lower PRS-IPF (odds ratio 1&#xb7;79 [95% CI 1&#xb7;15-2&#xb7;81]; p=0&#xb7;010) and shorter survival (hazard ratio 1&#xb7;53 [1&#xb7;12-2&#xb7;10]; p=7&#xb7;33&#x2009;&#xd7;&#x2009;10-3). Individuals with the lowest PRS-IPF also had worse survival (1&#xb7;61 [1&#xb7;25-2&#xb7;07]; p=1&#xb7;87&#x2009;&#xd7;&#x2009;10-4). These findings were validated in PROFILE and the meta-analysis of the results showed a consistent direction of effect across both cohorts. INTERPRETATION: We found non-additive effects between qualifying variants and common risk variants in IPF survival, suggesting distinct disease subtypes and raising the possibility of using PRS to guide sequencing prioritisation. Assessing the carrier status for qualifying variants and modelling PRS-IPF promises to further contribute to predicting disease progression among patients with IPF. FUNDING: Instituto de Salud Carlos III; Instituto Tecnol&#xf3;gico y de Eenerg&#xed;as Renovables; Cabildo Insular de Tenerife; Fundaci&#xf3;n DISA; National Heart, Lung, and Blood Institute of the US National Institutes of Health; and UK Medical Research Council.

Humans

Artificial intelligence in healthcare and medicine: clinical applications, therapeutic advances, and future perspectives.

Healthcare systems worldwide face growing challenges, including rising costs, workforce shortages, and disparities in access and quality, particularly in low- and middle-income countries. Artificial intelligence (AI) has emerged as a transformative tool capable of addressing these issues by enhancing diagnostics, treatment planning, patient monitoring, and healthcare efficiency. AI's role in modern medicine spans disease detection, personalized care, drug discovery, predictive analytics, telemedicine, and wearable health technologies. Leveraging machine learning and deep learning, AI can analyze complex data sets, including electronic health records, medical imaging, and genomic profiles, to identify patterns, predict disease progression, and recommend optimized treatment strategies. AI also has the potential to promote equity by enabling cost-effective, resource-efficient solutions in low-resource and remote settings, such as mobile diagnostics, wearable biosensors, and lightweight algorithms. Successful deployment requires addressing critical challenges, including data privacy, algorithmic bias, model interpretability, regulatory oversight, and maintaining human clinical oversight. Emphasizing scalable, ethical, and evidence-driven implementation, key strategies include clinician training in AI literacy, adoption of resource efficient tools, global collaboration, and robust regulatory frameworks to ensure transparency, safety, and accountability. By complementing rather than replacing healthcare professionals, AI can reduce errors, optimize resources, improve patient outcomes, and expand access to quality care. This review emphasizes the responsible integration of AI as a powerful catalyst for innovation, sustainability, and equity in healthcare delivery worldwide.

Humans

Bayesian classification of OXPHOS deficient skeletal myofibres.

Mitochondria are organelles in most human cells which release the energy required for cells to function. Oxidative phosphorylation (OXPHOS) is a key biochemical process within mitochondria required for energy production and requires a range of proteins and protein complexes. Mitochondria contain multiple copies of their own genome (mtDNA), which codes for some of the proteins and ribonucleic acids required for mitochondrial function and assembly. Pathology arises from genetic defects in mtDNA and can reduce cellular abundance of OXPHOS proteins, affecting mitochondrial function. Due to the continuous turn-over of mtDNA, pathology is random and neighbouring cells can possess different OXPHOS protein abundance. Estimating the proportion of cells where OXPHOS protein abundance is too low to maintain normal function is critical to understanding disease severity and predicting disease progression. Currently, one method to classify single cells as being OXPHOS deficient is prevalent in the literature. The method compares a patient's OXPHOS protein abundance to that of a small number of healthy control subjects. If the patient's cell displays an abundance which differs from the abundance of the controls then it is deemed deficient. However, due to the natural variation between subjects and the low number of control subjects typically available, this method is inflexible and often results in a large proportion of patient cells being misclassified. These misclassifications have significant consequences for the clinical interpretation of these data. We propose a single-cell classification method using a Bayesian hierarchical mixture model, which allows for inter-subject OXPHOS protein abundance variation. The model accurately classifies an example dataset of OXPHOS protein abundances in skeletal muscle fibres (myofibres). When comparing the proposed and existing model classifications to manual classifications performed by experts, the proposed model results in estimates of the proportion of deficient myofibres that are consistent with expert manual classifications.

Oxidative Phosphorylation

Development and external validation of an explainable machine learning model for predicting chronic kidney disease progression in the Korean population.

BACKGROUND: Current risk stratification models, such as the Kidney Failure Risk Equation (KFRE), exhibit variable performance across ethnic groups and fail to capture dynamic clinical trajectories. This study aimed to develop and validate a Korean-specific machine learning (ML) model for predicting chronic kidney disease (CKD) progression using an ensemble approach. METHODS: We used electronic health records from Seoul National University Hospital for model development (n = 28,209) and the Korean Genome and Epidemiology Study (KoGES) CKD cohort for external validation (n = 3,960). The primary outcome was a composite of &#x2265;40% decline in estimated glomerular filtration rate (eGFR) or progression to end-stage renal disease within 2 years. A soft-voting ensemble of four ML algorithms (XGBoost, LightGBM, CatBoost, and Random Forest) was developed. RESULTS: The ensemble model demonstrated robust discrimination in internal validation (area under the receiver operating characteristic curve [AUROC], 0.939; 95% confidence interval [CI], 0.934-0.944), significantly exceeding the KFRE (AUROC, 0.879-0.884). External validation in the KoGES cohort showed comparable discrimination (AUROC, 0.859; 95% CI, 0.798-0.914) versus KFRE (four-variable AUROC, 0.882; 95% CI, 0.818-0.935). Shapley Additive exPlanations (SHAP) analysis identified baseline eGFR, serum creatinine, eGFR slope, albumin, and hemoglobin as key prognostic features, supporting a complementary framework using KFRE for community screening and the ML model for hospital-based risk stratification. CONCLUSION: The ensemble ML model accurately predicts short-term CKD progression in Korean patients. By incorporating longitudinal features and ensemble learning, it provides a precise alternative to Western-derived equations, particularly in tertiary care settings.

Chronic kidney failure

Metabolomics in breast cancer: insights into treatment responses, disease progression, and prognostic assessment.

BACKGROUND: Alterations in metabolic pathways are a hallmark of cancer and play a pivotal role in breast cancer development and progression. The inherent metabolic heterogeneity of breast cancer contributes to differences in therapeutic response and patients' prognosis. Clinical metabolomics has emerged as a promising approach for identifying metabolic biomarkers that reflect tumor biology, treatment-related changes after diagnosis, and patients' outcomes. AIMS OF REVIEW: This review summarizes the metabolomic profiles of breast cancer patients, using various biological materials and analytical methods, to assess their potential role as biomarkers for monitoring therapeutic response, adverse treatment effects, tracking disease progression, and predicting prognosis. KEY SCIENTIFIC CONCEPT OF REVIEW: Metabolomic shifts generate unique signatures with promising potential as biomarkers for evaluating treatment response, monitoring therapeutic adverse effects, disease progression, and predicting clinical outcomes in breast cancer patients. Biological matrices, such as serum, plasma, and tumor tissue, were commonly used in both untargeted and targeted metabolomics approaches. Liquid chromatography-mass spectrometry is the most commonly used analytical method in clinical metabolomics studies. Altered metabolites were identified and linked to metabolic pathways, particularly amino acids, glucose, and fatty acids metabolism. When integrated with genomic and transcriptomic data, these metabolic fingerprints offer a multidimensional perspective on disease trajectory, thereby enhancing patient stratification and informing personalized therapeutic strategies.

Humans

Clinical Variable-Based Machine Learning for Predicting Early mCRPC Using Exclusively Clinical Variables: Development and Multicenter External Validation.

BACKGROUND AND OBJECTIVE: Metastatic hormone-sensitive prostate cancer (mHSPC) exhibits heterogeneous progression patterns, with early progression to metastatic castration-resistant prostate cancer (mCRPC) within 12 months indicating aggressive tumor biology and poor prognosis. Current risk stratification tools (CHAARTED, LATITUDE) offer limited individualized prediction. Machine learning approaches are increasingly applied to predict prostate cancer progression, but most models show modest performance (AUC 0.68-0.72), limited external validation, or require genomic variables unavailable in routine practice. This study aimed to develop and externally validate a novel RINH algorithm for predicting early mCRPC progression (&#x2264;&#x2009;12 months) using exclusively clinical variables, positioning it as a superior alternative to conventional ML classifiers. METHODS: This multicenter study enrolled 412 patients with de novo mHSPC from seven Spanish academic centers using mixed retrospective-prospective data collection. Twenty clinical variables were recorded, including demographics, PSA, ISUP grade, metastatic localization, CHAARTED/LATITUDE classifications, and treatment modalities. Following RINH-based outlier exclusion (55 patients), 357 patients (29 with early progression, 8.1%) were used to train six ML algorithms: RINH, Logistic Regression, Linear Discriminant, Support Vector Machine, Random Forest, and Subspace Discriminant. A two-tiered validation strategy integrated stratified fivefold cross-validation across all centers and formal external validation using center 1 (n&#x2009;=&#x2009;121, 19 events) for training and centers 2-7 (n&#x2009;=&#x2009;207, 10 events) for independent testing. Performance metrics included AUC, sensitivity, specificity, accuracy, and F1-score. KEY FINDINGS AND LIMITATIONS: Artificial intelligence and machine learning (ML) are transforming oncology, promising personalized risk stratification beyond traditional clinical criteria. In metastatic hormone-sensitive prostate cancer (mHSPC), early progression to castration resistance (mCRPC) within 12 months signals aggressive biology and poor prognosis, yet current tools (CHAARTED, LATITUDE) offer limited individualized prediction. Multiple ML models have been proposed with variable success: most achieve modest performance (AUC 0.68-0.72), lack robust external validation, or rely on genomic variables inaccessible in routine practice. We propose a novel approach using the Rivality Index Neighborhood (RINH) algorithm, demonstrating superior predictive capacity in an initial multicenter validation with exclusively clinical variables. This study provides rigorous multicenter external validation, advancing toward implementable precision oncology tools. CONCLUSIONS AND CLINICAL IMPLICATIONS: The RINH algorithm achieves superior predictive performance for early mCRPC progression using exclusively clinical variables, representing a significant advance toward implementable risk stratification. However, low reliability scores in external validation underscore that excellent performance metrics alone do not guarantee stability. Before clinical deployment, validation in substantially larger cohorts with higher progression events is essential. If validated, this model could enable personalized, risk-adapted therapeutic strategies, refining patient selection for treatment intensification or de-escalation.

Humans

Artificial Intelligence and Machine Learning Applications in Fibromuscular Dysplasia: Transforming Diagnosis, Risk Stratification, and Clinical Decision-Making.

Fibromuscular dysplasia (FMD) is a non-atherosclerotic vascular disorder with heterogeneous presentations, making diagnosis and management highly dependent on imaging and clinical expertise. This narrative review examines how artificial intelligence (AI) and machine learning (ML) are transforming FMD care. AI-enhanced imaging, particularly convolutional neural network-based analysis, improves detection of the characteristic "string-of-beads" pattern on CT angiography, magnetic resonance angiography, and ultrasound, although FMD-specific validation remains limited. ML models facilitate risk stratification, prediction of disease progression, and early identification of complications such as aneurysms and stroke by integrating clinical, imaging, and genomic data. AI-driven clinical decision support systems further enable personalized treatment selection through pharmacogenomic insights and robot-assisted interventions. Despite promising real-world applications, challenges persist, including limited large-scale datasets, workflow integration, regulatory barriers, and algorithmic bias affecting underrepresented populations. Future advances in explainable AI, federated learning, and digital health integration may enable a shift toward predictive, patient-centered FMD management.

Humans

To Treat or Not to Treat: Navigating Early-Stage CLL in the Era of Targeted Therapy.

Chronic lymphocytic leukemia (CLL) is most frequently diagnosed at early, asymptomatic stages (Rai 0/Binet A), in which a watch-and-wait strategy remains the standard of care, based on historical trials demonstrating no overall survival benefit from early treatment. Over the past two decades, however, substantial advances in genomic profiling-including immunoglobulin heavy-chain variable region (IGHV) mutational status, TP53 disruption, recurrent gene mutations, and complex karyotype-have uncovered marked biological heterogeneity among early-stage patients and substantially improved prediction of disease progression. In parallel, targeted therapies such as Bruton tyrosine kinase (BTK) inhibitors and venetoclax-based combinations have transformed the management of symptomatic CLL, raising renewed interest in whether early intervention might favorably alter the natural history of biologically high-risk disease. In this review, we critically examine the evolution of prognostication in early-stage CLL, integrate contemporary molecular and clinical risk models, and summarize evidence from both historical chemotherapy-era studies and modern early-intervention trials. We discuss key unresolved controversies, including reliance on surrogate endpoints, the risks of overtreatment, and the persistent absence of an overall survival benefit across all early-treatment strategies. Finally, we outline future research priorities, including refined genomic stratification, minimal residual disease-driven (MRD)-driven approaches, and combination targeted therapies currently under investigation. Despite renewed interest in preemptive treatment, available evidence supports continued observation for asymptomatic patients outside clinical trials.

Humans

Longitudinal Prediction of Retinal Sensitivity Based on Disease Progression Quantified From Optical Coherence Tomography in Geographic Atrophy.

PURPOSE: The purpose of this study was to analyze the association between disease progression of geographic atrophy (GA) from optical coherence tomography (OCT) with retinal sensitivity (RS) in microperimetry (MP) over a 2-year follow-up period. METHODS: This is a longitudinal analysis of the OAKS Phase-III clinical trial. Both study and fellow eyes with GA that underwent imaging with the Spectralis OCT and consecutive MP examination were eligible. Pointwise quantification of ellipsoid zone (EZ) thickness, EZ and retinal pigment epithelium (RPE) loss from OCT volumes was correlated with localized RS. A longitudinal predictive model using a Markov Chain framework was implemented to predict RS change over time based on OCT biomarkers. The modeling of morphological and functional progression was based on the fellow-eye cohort. RESULTS: A total of 39,681 MP points from 406 patients were analyzed. In the fellow eye cohort, baseline (BSL) EZ thickness was positively associated with RS (0.3 decibel [dB]/&#xb5;m, P < 0.001). Decrease in EZ thickness between visits during follow-up was significantly associated with decrease in RS (0.1 dB / 1&#xa0;&#xb5;m change). RS was significantly lower in MP points within EZ loss during follow-up compared with MP points within the retina with measurable EZ (P < 0.001). The largest functional decline was observed within RPE loss, also associated with the highest probability of absolute scotoma (P < 0.001). Morphological progression to EZ and RPE loss was influenced by EZ thickness and the morphology of adjacent MP points (P < 0.001). CONCLUSIONS: Two exploratory endpoints were developed, namely quantification of EZ thickness and loss, and localized RS within high-risk OCT areas. RS decline during follow-up is associated with automatically quantified disease progression in OCT.

Humans

Soluble CD163 as a Non-Invasive Biomarker in Autoimmune Nephrological and Rheumatological Diseases.

Autoimmune nephrological and rheumatological diseases involve macrophage-driven inflammation, yet disease activity is often assessed using invasive or non-specific measures. Soluble CD163 (sCD163), released from activated monocytes and macrophages, is emerging as a biomarker of macrophage-mediated inflammation in these conditions. This narrative review summarizes current evidence on the diagnostic, prognostic, and disease-monitoring potential of sCD163 measured in blood, urine, and synovial fluid in autoimmune nephrological and rheumatological diseases. This review is based on a narrative analysis of selected publications investigating the clinical utility of sCD163 in autoimmune kidney and rheumatic diseases, with emphasis on correlations with disease activity, histopathological findings, and clinical outcomes. Urinary sCD163 shows excellent diagnostic accuracy for active lupus nephritis (area under the receiver operating characteristic [AUROC] 0.89-0.998), correlates with histological activity index (but not chronicity), and distinguishes ongoing inflammation from chronic damage during treatment. In IgA nephropathy, it predicts remission failure and greater benefit from corticosteroids. In ANCA-associated vasculitis, it identifies active renal involvement (AUROC 0.95 in multicenter cohorts). In rheumatoid arthritis (RA), serum sCD163 correlates with early disease activity, predicts radiographic progression, and detects subclinical macrophage activation in remission. In spondylarthritis, synovial fluid sCD163 reflects a disease-specific M2-polarized macrophage phenotype distinct from RA. Utility is compartmentalized: urinary levels indicate intrarenal macrophage activation, synovial fluid local joint inflammation, and serum systemic activation. sCD163 is a promising macrophage-specific biomarker across autoimmune diseases, but its compartmentalized nature requires context-specific measurement. Before clinical implementation, assay standardization, multicenter validation, and interventional trials showing the benefit of sCD163-guided management are needed.

Humans

Transcriptome changes in circulating immune cells of critical COVID-19 patients predict a specific metabolic and epigenetic imprint.

BACKGROUND: The progression to critical COVID-19 arises predominantly from a dysregulated host immune response although the underlying regulatory mechanisms still remain partially elusive. This limits a prompt prediction of the disease progression, reduces the therapeutic options and restrains our understanding of &#x201c;long COVID&#x201d;. METHODS: Here, we analyzed the transcriptome of peripheral blood mononuclear cells (PBMCs) collected from COVID-19 patients experiencing different degrees of the disease (mild and critical), and control patients enrolled in the clinical trial COntAGIouS as well as independent bulk RNA-seq, single-cell RNA-seq and proteomic datasets. RESULTS: In critical COVID-19 patients, the integrative analysis of transcriptomic data revealed an altered regulatory network involving microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and coding genes that control mRNA translation-related genes, epigenetics, and metabolism. In parallel, we observed an upregulation of tRNA aminoacylation genes in critical COVID-19 patients by the analysis of either bulk or single-cell RNA-seq data from publicly available independent cohorts. Additionally, we found increased expression of coding genes enriched for the cognate amino acids (glycine, alanine, isoleucine and tyrosine), all related to protein localization, post-translational modifications, and cell metabolism in our cohort. Similar alterations in amino acid frequency were found in an independent proteomic dataset. CONCLUSIONS: Collectively, our findings indicate a broad perturbation of the gene expression landscape that characterizes the aberrant host immune response in critical COVID-19 patients and is potentially coordinated by miRNA and tRNA metabolism alterations. TRIAL REGISTRATION: COntAGIouS, NCT04327570. Registered 26 March 2020, https://clinicaltrials.gov/ct2/show/NCT04327570 .

Female