Search Results (6)

Artificial intelligence (AI) and machine learning (ML) are transforming the landscape of rheumatological and systemic inflammatory disease management, offering unprecedented capacity to integrate complex, multidimensional data for diagnostic support, disease monitoring, and therapeutic decision-making. This comprehensive narrative review, based on a non-systematic literature search of PubMed/MEDLINE and Google Scholar combined with the authors’ clinical expertise, provides a clinically oriented synthesis of current and emerging AI applications across the full spectrum of immune-mediated inflammatory diseases—including rheumatoid arthritis, systemic lupus erythematosus, vasculitis, inflammatory bowel disease, psoriatic arthritis, systemic sclerosis, inflammatory myopathies, and sarcoidosis—with particular attention to applications that have demonstrated or are approaching clinical utility. We discuss deep learning-based image analysis, natural language processing of electronic health records, multi-omic biomarker discovery, and the application of Fourier transform-based signal processing to biological time series as a novel approach to continuous disease monitoring. Fourier transform methods—already foundational in MRI reconstruction, cardiac electrophysiology, and clinical neurophysiology—are here systematically extended to rheumatological and inflammatory disease signals, including accelerometry, electromyography, heart rate variability, and longitudinal biomarker time series. The phenomenon of large language model hallucination—particularly critical in rare inflammatory diseases—is addressed alongside retrieval-augmented generation as a mitigation strategy. We further argue that AI-driven methods do not merely improve the interpretation of clinical data, but fundamentally expand what is observable—with profound epistemological implications for clinical knowledge transmitted through generations of medical tradition. Ethical considerations and future directions toward precision inflammatory disease medicine are outlined. Full article

The underlying causes fof major mental illnesses, including anxiety disorders (ADs), depression, and bipolar disorder (BD), remain insufficiently understood, limiting the availability of effective, patient-friendly treatments and accurate diagnostic tests. For instance, anxiety disorders encompass a diverse spectrum of subtypes and may emerge at different stages of mental illness, each with distinct symptom profiles. This heterogeneity often complicates differential diagnosis, leading, in many cases, to delayed treatment or inappropriate management. In recent years, technological advances have enabled the development of artificial intelligence (AI)-based approaches that, when integrated with multi-omics data, offer substantial advantages over traditional statistical methods, particularly for analysing large-scale datasets and integrating clinical with bioanalytical information. This review analyses current efforts to identify biomarkers for mental illness and explores the application of machine learning, deep learning, and computational modelling in advancing personalised and precise diagnostics. Full article

Spitz and Spitzoid lesions represent one of the most challenging melanocytic neoplasms in dermatopathology. Nosologic classification has been more recently improved by the discovery of novel molecular drivers, particularly translocations. In the current study, we aimed to use an unbiased approach to explore the gene expression profile of a group of melanocytic Spitz and Spitzoid melanocytic lesions ranging from benign lesions to melanoma, including intermediate lesions such as SPARK nevi and atypical Spitz tumors/melanocytomas. Using unsupervised analysis of gene expression data, we found some distinct hierarchical clusters of lesions, including groups characterized by ALK and NTRK translocations. Few non-ALK translocated tumors demonstrated increased ALK expression, confirmed by immunohistochemistry. Spitz tumors with overlapping features of dysplastic nevi, so-called SPARK nevi, appear to have a common gene expression profile by hierarchical clustering. Finally, weighted gene correlation network analysis identified gene modules variably regulated in subtypes of these cases. Thus, gene expression profiling of Spitz and Spitzoid lesions represents a viable instrument for the characterization of these lesions. Full article

Background: The concept of Alzheimer disease (AD)—since its histological discovery by Alzheimer to the present day—has undergone substantial modifications. Methods: We conducted a classical narrative review of this field with a bibliography selection (giving preference to Medline best match). Results: The following subjects are reviewed and discussed: Alzheimer’s discovery, Kraepelin’s creation of a new disease that was a rare condition until the 1970′s, the growing interest and investment in AD as a major killer in a society with a large elderly population in the second half of the 20th century, the consolidation of the AD clinicopathological model, and the modern AD nosology based on the dominant amyloid hypothesis among many others. In the 21st century, the development of AD biomarkers has supported a novel biological definition of AD, although the proposed therapies have failed to cure this disease. The incidence of dementia/AD has shown a decrease in affluent countries (possibly due to control of risk factors), and mixed dementia has been established as the most frequent etiology in the oldest old. Conclusions: The current concept of AD lacks unanimity. Many hypotheses attempt to explain its complex physiopathology entwined with aging, and the dominant amyloid cascade has yielded poor therapeutic results. The reduction in the incidence of dementia/AD appears promising but it should be confirmed in the future. A reevaluation of the AD concept is also necessary. Full article

Articulating a satisfactory definition of a disease is surprisingly difficult. Despite the alarming individual, societal and economic burden of chronic obstructive pulmonary disease (COPD), diagnosis is still largely based on a physiologically dominated disease conception, with spirometrically determined airflow limitation as a cardinal feature of the disease. The diagnostic inaccuracy and insensitivity of this physiological disease definition is reviewed considering scientific developments of imaging of the respiratory system in particular. Disease must be approached as a fluid concept in response to new scientific and medical discoveries, but labelling as well as mislabelling someone as diseased, will have enormous individual, social and financial implications. Nosology of COPD urgently needs to dynamically integrate more sensitive diagnostic procedures to detect the breadth of abnormalities early in the disease process. Integration of broader information for the identification of abnormalities in the respiratory system is a cornerstone for research models of underlying pathomechanisms to create a breakthrough in research. Full article

In this article, I review the work of the pioneers in neurology and psychiatry in Europe in the 19th and 20th century and the significant scientific advances that changed the face of both specialties. The history of Swiss Neurology, which has been the subject of numerous previous articles in this journal, is not discussed here. Some of the most famous pioneers in neurology are presented, such as Jackson, Gowers, Duchenne, Charcot and Alzheimer, who all made extraordinary contributions to the nosology of neurologic diseases and played a pivotal part in establishing neurology as a clinical specialty. Prominent pioneers in psychiatry are Griesinger, Meynert, Kraepelin, Bleuler and Freud. They introduced pathological anatomy into clinical psychiatry and described new disease entities. Major milestones and discoveries in neurology and psychiatry are presented. Sakel was the discoverer of insulin shock therapy for schizophrenics and other mental patients. Moniz invented cerebral angiography and developed a surgical technique to interrupt the nerve fibres which connect the thalamus to the prefrontal cortex (already known at the time as a brain structure involved in higher intellectual functions of the brain, and in emotions as well). Actually, the Swiss psychiatrist Gottlieb Burckhardt performed the first attempts at psychosurgery. Delay was the first psychiatrist to recognise the therapeutic value of chlorpromazine in the treatment of schizophrenia. It was a major factor in the clearing and opening of psychiatric wards, allowing many inpatients to function effectively as outpatients. Following the discovery of the catecholamines and the loss of dopamine in the striatum of Parkinson’s patients, Birkmayer was the first to try L-Dopa in the therapy for Parkinson disease, but the breakthrough in L-dopa treatment came from the work of Cotzias. L-Dopa is still, today, the mainstream drug in the treatment of Parkinson disease. Modern medicine can hardly be conceived without imaging techniques. Since its introduction in the clinic, MRI has assumed a role of unparalleled importance in diagnostic medicine. With the emergence of functional MRI (fMRI), research in cognitive neuroscience has been transformed. It would be presumptuous to foresee where neurology and psychiatry are going. If the past gives us any clue about the future, we can guess that psychiatry and neurology will be shaped by clinician-scientists that view the boundary between both specialties, not as a territorial line, but as a broad and mostly unexplored terrain. Full article