Wiki source code of Neurodiagnoses

Version 24.1 by manuelmenendez on 2025/01/29 18:46
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5 = //A new tridimensional diagnostic framework for CNS diseases// =
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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 We aim to create a structured, interpretable, and scalable diagnostic tool.
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16 = What is this about and what can I find here? =
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18 == **Overview** ==
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20 The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on:
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22 * **Axis 1**: Etiology (genetic or other causes of diseases).
23 * **Axis 2**: Molecular Markers (biomarkers).
24 * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
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27 [[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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30 This methodology enables:
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32 * Greater precision in diagnosis.
33 * Integration of incomplete datasets using AI-driven probabilistic modeling.
34 * Stratification of patients for personalized treatment.
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36 == **The case of neurodegenerative diseases** ==
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38 There have been described these 3 diagnostic axes:
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41 **Axis 1: Etiology**
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43 * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
44 * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
45 * //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
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48 **Axis 2: Molecular Markers**
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50 * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
51 * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
52 * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
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55 **Axis 3: Neuroanatomoclinical**
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57 * //Description//: Links clinical symptoms to neuroanatomical changes, such as atrophy or functional impairments.
58 * //Examples//: Hippocampal atrophy correlating with memory deficits.
59 * //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations.
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62 == **Applications** ==
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64 This system enhances:
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66 * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
67 * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
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69 == Who has access? ==
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71 We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
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73 == How to Contribute ==
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75 * Access the `/docs` folder for guidelines.
76 * Use `/code` for the latest AI pipelines.
77 * Share feedback and ideas in the wiki discussion pages.
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79 == Key Objectives ==
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81 * Develop interpretable AI models for diagnosis and progression tracking.
82 * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
83 * Foster collaboration among neuroscientists, AI researchers, and clinicians.
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89 {{box title="**Contents**"}}
90 {{toc/}}
91 {{/box}}
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93 == Main contents ==
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95 * `/docs`: Documentation and contribution guidelines.
96 * `/code`: Machine learning pipelines and scripts.
97 * `/data`: Sample datasets for testing.
98 * `/outputs`: Generated models, visualizations, and reports.
99 * [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
100 * [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
101 * [[to-do-list>>to-do-list]]
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