Wiki source code of Neurodiagnoses
Version 23.1 by manuelmenendez on 2025/01/29 18:46
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23.1 | 5 | = //A new tridimensional diagnostic framework for CNS diseases// = |
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23.1 | 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. |
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6.1 | 8 | We aim to create a structured, interpretable, and scalable diagnostic tool. |
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6.1 | 16 | = What is this about and what can I find here? = |
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9.1 | 18 | == **Overview** == |
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23.1 | 20 | The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on: |
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16.1 | 22 | * **Axis 1**: Etiology (genetic or other causes of diseases). |
| 23 | * **Axis 2**: Molecular Markers (biomarkers). | ||
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6.1 | 24 | * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system). |
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23.1 | 26 | [[For instance, neurodegenerative diseases can be studied and classified in a tridimensional scheme with three axes: anatomic–clinical, molecular, and etiologic. CSF, cerebrospinal fluid; FDG, fluorodeoxyglucose; MRI, magnetic resonance imaging; PET, positron emission tomography.>>image:tridimensional.png||alt="tridimensional view of neurodegenerative diseases"]] |
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6.1 | 29 | This methodology enables: |
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| 31 | * Greater precision in diagnosis. | ||
| 32 | * Integration of incomplete datasets using AI-driven probabilistic modeling. | ||
| 33 | * Stratification of patients for personalized treatment. | ||
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23.1 | 35 | == **The case of neurodegenerative diseases** == |
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6.1 | 36 | |
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23.1 | 37 | There have been described these 3 diagnostic axes: |
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6.1 | 39 | * ((( |
| 40 | **Axis 1: Etiology** | ||
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| 42 | * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers. | ||
| 43 | * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression. | ||
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23.1 | 44 | * //Tests//: Genetic testing, lifestyle, and cardiovascular screening. |
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| 47 | **Axis 2: Molecular Markers** | ||
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| 49 | * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression. | ||
| 50 | * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology. | ||
| 51 | * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET). | ||
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| 54 | **Axis 3: Neuroanatomoclinical** | ||
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| 56 | * //Description//: Links clinical symptoms to neuroanatomical changes, such as atrophy or functional impairments. | ||
| 57 | * //Examples//: Hippocampal atrophy correlating with memory deficits. | ||
| 58 | * //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations. | ||
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9.1 | 61 | == **Applications** == |
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6.1 | 62 | |
| 63 | This system enhances: | ||
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7.2 | 65 | * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials. |
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6.1 | 66 | * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking. |
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5.1 | 68 | == Who has access? == |
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4.2 | 70 | We welcome contributions from the global community. Let’s build the future of neurological diagnostics together! |
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4.4 | 71 | |
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10.1 | 72 | == How to Contribute == |
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4.4 | 73 | |
| 74 | * Access the `/docs` folder for guidelines. | ||
| 75 | * Use `/code` for the latest AI pipelines. | ||
| 76 | * Share feedback and ideas in the wiki discussion pages. | ||
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5.1 | 77 | |
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10.1 | 78 | == Key Objectives == |
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5.1 | 79 | |
| 80 | * Develop interpretable AI models for diagnosis and progression tracking. | ||
| 81 | * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources. | ||
| 82 | * Foster collaboration among neuroscientists, AI researchers, and clinicians. | ||
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| 88 | {{box title="**Contents**"}} | ||
| 89 | {{toc/}} | ||
| 90 | {{/box}} | ||
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10.1 | 92 | == Main contents == |
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4.4 | 93 | |
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5.1 | 94 | * `/docs`: Documentation and contribution guidelines. |
| 95 | * `/code`: Machine learning pipelines and scripts. | ||
| 96 | * `/data`: Sample datasets for testing. | ||
| 97 | * `/outputs`: Generated models, visualizations, and reports. | ||
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21.1 | 98 | * [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]] |
| 99 | * [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]] | ||
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22.1 | 100 | * [[to-do-list>>to-do-list]] |
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1.1 | 101 | ))) |
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