Dermatomyositis with anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibodies is a rare, poorly recognised and potentially life-threatening subtype of idiopathic inflammatory myopathies. Frequent amyopathic course, unique cutaneous lesions, symptoms interfering with other connective tissue diseases, and low awareness of the disease lead to a delay in establishing the proper diagnosis. Clinical presentations may differ among individuals, and three main patterns have been identified depending on the predominant symptoms and prognosis. Interstitial lung disease and vasculopathy contribute mostly to an unfavourable outcome. The study aimed to present different courses of anti-MDA5 myopathy and highlight the heterogenicity of the disease, based on real-life cases from one centre. This is also the first study to document renal involvement in the form of focal segmental glomerulosclerosis in patient with anti-MDA5 dermatomyositis. The review section broadly describes up-to-date knowledge on the subtypes of anti-MDA5 myopathy, thoroughly exploring its pathogenesis, clinical presentations and currently recommended standards of care.
Background: Cardiovascular diseases (CVDs) remain the leading global cause of mortality, yet a critical “translational gap” persists: Conventional biomarkers often fail to detect subclinical stages or predict individual disease trajectories. While single-omics studies have proliferated, the field lacks a unified framework synthesizing these molecular layers with advanced computational intelligence. Aim: This review addresses this gap by evaluating the synergistic integration of multi-omics and Artificial Intelligence (AI) to transition from descriptive markers toward predictive precision cardiology. Scope: Evidence from non-coding RNA networks (miRNAs, lncRNAs) and exosomal trafficking is synthesized alongside a critical assessment of Machine Learning (ML) architectures, including supervised, unsupervised, and deep learning (DL) models. Findings: Unlike traditional reviews, this work delineates the specific pipelines required to deconvolute high-dimensional signatures—such as TMAO, acylcarnitines, and cardiac-enriched miRNAs—into actionable risk models for heart failure (HF) and post-infarction outcomes. The primary barrier to clinical translation is identified not as data scarcity but as the lack of standardized bioinformatic workflows and model interpretability. Conclusions: This review distinguishes itself by proposing an integrated molecular–computational framework that prioritizes Explainable AI (XAI) and standardized multi-omic protocols. Such a shift is essential to bridge the gap between high-dimensional biological insights and routine clinical decision-making.
Liquid biopsy has emerged as one of the most promising approaches in precision oncology by enabling minimally invasive, real-time molecular characterization of tumors. Despite growing evidence, its clinical utility in urogenital cancers remains insufficiently defined. Differences in tumor biology, assay sensitivity and availability of tumor-derived material limit the assessment of its diagnostic, prognostic and predictive value across individual malignancies. This review summarizes the biological basis of liquid biopsy and evaluates its current and emerging clinical applications in prostate, bladder, renal cell, testicular, and penile cancers. Particular emphasis is placed on its potential for molecular tumor characterization, risk stratification, treatment selection, monitoring of therapeutic response and resistance, and detection of minimal residual disease. The current evidence indicates that liquid biopsy provides complementary information to tissue biopsy, particularly by enabling repeated sampling and longitudinal monitoring of tumor evolution. Its clinical value appears most relevant when tissue acquisition is challenging or dynamic molecular assessment is required. However, important limitations include low levels of tumor-derived material in selected malignancies, methodological heterogeneity, and insufficient prospective validation. Liquid biopsy should currently be considered a complementary rather than a replacement approach to tissue biopsy. Further technological advances, methodological standardization, and prospective clinical validation may facilitate its broader integration into clinical practice and support more precise diagnosis, treatment monitoring, and personalized management of urogenital cancers.