Changes for page Neurodiagnoses
Last modified by manuelmenendez on 2025/03/03 22:46
From version 40.1
edited by manuelmenendez
on 2025/02/02 15:12
on 2025/02/02 15:12
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To version 35.1
edited by manuelmenendez
on 2025/02/02 00:48
on 2025/02/02 00:48
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... ... @@ -2,9 +2,9 @@ 2 2 ((( 3 3 (% class="container" %) 4 4 ((( 5 -= //A new tridimensional diagnostic framework for complexCNS diseases// =5 += //A new tridimensional diagnostic framework for CNS diseases// = 6 6 7 -This project is focused on developing a novel nosological and diagnostic framework for complexCNS diseases by using advanced AI techniques and integrating data from neuroimaging, biomarkers, and biomedical ontologies.7 +This project is focused on developing a novel nosological and diagnostic framework for CNS diseases by using advanced AI techniques and integrating data from neuroimaging, biomarkers, and biomedical ontologies. 8 8 We aim to create a structured, interpretable, and scalable diagnostic tool. 9 9 ))) 10 10 ))) ... ... @@ -18,10 +18,16 @@ 18 18 = **Overview** = 19 19 20 20 21 -The classification and diagnosis of central nervous system (CNS) diseases have long been constrained by traditional phenotype-based approaches, which often fail to capture the complex pathophysiological mechanisms, molecular biomarkers, and neuroanatomical changes that drive disease progression. 21 +The classification and diagnosis of **central nervous system (CNS) diseases** have long been constrained by **traditional phenotype-based approaches**, which often fail to capture the **complex pathophysiological mechanisms, molecular biomarkers, and neuroanatomical changes** that drive disease progression. **Neurodegenerative and psychiatric disorders**, for example, exhibit significant **clinical overlap, co-pathology, and heterogeneity**, making current diagnostic models insufficient. 22 22 23 - Neurodiagnosesisanopen-sourceAI-powereddiagnosticsystemdesignedforcomplexCNS disorders,includingneurodegenerativediseases,autoimmuneencephalopathies,priondisorders,andgeneticyndromes.Theproject aimstodevelopridimensional diagnosticframework with an AI-powered annotationystem,integratingetiology,molecularbiomarkers, andneuroanatomoclinicalcorrelationsforprecise, standardized,andscalableCNS diseasediagnostics.23 +This project proposes a **new diagnostic framework**—one that **shifts from symptom-based classifications** to an **etiology-driven, tridimensional system**. By integrating **genetics, proteomics, neuroimaging, computational modeling, and AI-powered annotations**, this approach aims to provide a **more precise, scalable, and biologically grounded method for diagnosing and managing CNS diseases**. 24 24 25 +The **AI-powered annotation system** plays a critical role by **structuring, interpreting, and tracking multi-modal data**, ensuring **real-time disease progression analysis, clinician decision support, and personalized treatment pathways**. 26 + 27 +=== **Project Aim** === 28 + 29 +The project aims to develop a **tridimensional diagnostic framework** with an **AI-powered annotation system**, integrating **etiology, molecular biomarkers, and neuroanatomoclinical correlations** for **precise, standardized, and scalable CNS disease diagnostics**. 30 + 25 25 The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on: 26 26 27 27 * **Axis 1**: Etiology (genetic or other causes of diseases). ... ... @@ -36,36 +36,14 @@ 36 36 37 37 == **The Role of AI-Powered Annotation** == 38 38 39 -To enhance standardization, interpretability, and clinical application, the framework integrates an AI-powered annotation system, which: 45 +To enhance **standardization, interpretability, and clinical application**, the framework integrates **an AI-powered annotation system**, which: 40 40 41 -* Assigns structured metadata tags to diagnostic features. 42 -* Provides real-time contextual explanations for AI-based classifications. 43 -* Tracks longitudinal disease progression using timestamped AI annotations. 44 -* Improves AI model transparency through interpretability tools (e.g., SHAP analysis). 45 -* Facilitates decision-making for clinicians by linking annotations to standardized biomedical ontologies (SNOMED, HPO). 47 +* **Assigns structured metadata tags** to diagnostic features. 48 +* **Provides real-time contextual explanations** for AI-based classifications. 49 +* **Tracks longitudinal disease progression** using timestamped AI annotations. 50 +* **Improves AI model transparency** through interpretability tools (e.g., SHAP analysis). 51 +* **Facilitates decision-making for clinicians** by linking annotations to standardized biomedical ontologies (SNOMED, HPO). 46 46 47 -Neurodiagnoses provides two complementary AI-driven diagnostic approaches: 48 - 49 -1. Traditional Probabilistic Diagnosis 50 - 51 -* AI provides multiple possible diagnoses, each assigned a probability percentage based on biomarker, imaging, and clinical data. 52 -* Example Output: 53 -** 75% Alzheimer's Disease 54 -** 20% Lewy Body Dementia 55 -** 5% Vascular Dementia 56 -* Useful for differential diagnosis and treatment decision-making. 57 - 58 -2. Tridimensional Diagnosis 59 - 60 -* Diagnoses are structured based on: 61 -(1) Etiology (genetic, autoimmune, metabolic, infectious) 62 -(2) Molecular Biomarkers (amyloid-beta, tau, inflammatory markers, EEG patterns) 63 -(3) Neuroanatomoclinical Correlations (brain atrophy, connectivity alterations) 64 -* This approach enables precise disease subtyping and biologically meaningful classification, particularly useful to track progression over time. 65 - 66 -For every patient case, both systems will be offered, allowing clinicians to compare AI-generated probabilistic diagnosis with a structured tridimensional classification. 67 - 68 - 69 69 == **The case of neurodegenerative diseases** == 70 70 71 71 There have been described these 3 diagnostic axes: ... ... @@ -78,8 +78,6 @@ 78 78 * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers. 79 79 * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression. 80 80 * //Tests//: Genetic testing, lifestyle, and cardiovascular screening. 81 - 82 - 83 83 ))) 84 84 * ((( 85 85 **Axis 2: Molecular Markers** ... ... @@ -87,8 +87,6 @@ 87 87 * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression. 88 88 * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology. 89 89 * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET). 90 - 91 - 92 92 ))) 93 93 * ((( 94 94 **Axis 3: Neuroanatomoclinical**