Wiki source code of Neurodiagnoses

Version 7.1 by manuelmenendez on 2025/01/27 23:21
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5 = //A new tridimensional diagnostic framework for CNS conditions// =
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7 This project is focused on developing a novel nosological and diagnostic framework for neurological 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 how neurodegenerative diseases (NDDs) are classified by focusing on:
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22 * **Axis 1**: Etiology (genetic/sporadic and environmental factors).
23 * **Axis 2**: Molecular Markers (biomarkers and proteinopathies).
24 * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
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26 This methodology enables:
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28 * Greater precision in diagnosis.
29 * Integration of incomplete datasets using AI-driven probabilistic modeling.
30 * Stratification of patients for personalized treatment.
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32 ==== **Diagnostic Axes** ====
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35 **Axis 1: Etiology**
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37 * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
38 * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
39 * //Tests//: Genetic testing, lifestyle and cardiovascular screening.
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42 **Axis 2: Molecular Markers**
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44 * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
45 * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
46 * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
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49 **Axis 3: Neuroanatomoclinical**
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51 * //Description//: Links clinical symptoms to neuroanatomical changes, such as atrophy or functional impairments.
52 * //Examples//: Hippocampal atrophy correlating with memory deficits.
53 * //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations.
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56 ==== **Case Studies** ====
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59 **Sporadic Alzheimer’s Disease**:
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61 * Axis 1: Sporadic (ApoE4, poor sleep habits).
62 * Axis 2: Amyloid-beta plaques, elevated NFL.
63 * Axis 3: Right hippocampus atrophy (visual memory loss).
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66 **Genetic Parkinson’s Disease**:
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68 * Axis 1: Genetic (LRRK2 mutation).
69 * Axis 2: Alpha-synuclein aggregation.
70 * Axis 3: Substantia nigra degeneration (motor dysfunction).
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72
73 ==== **Applications** ====
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75 This system enhances:
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77 * **Research**: By stratifying patients, it reduces cohort heterogeneity in clinical trials.
78 * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
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80 == Who has access? ==
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82 We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
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84 == How to Contribute: ==
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86 * Access the `/docs` folder for guidelines.
87 * Use `/code` for the latest AI pipelines.
88 * Share feedback and ideas in the wiki discussion pages.
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90 == Key Objectives: ==
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92 * Develop interpretable AI models for diagnosis and progression tracking.
93 * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
94 * Foster collaboration among neuroscientists, AI researchers, and clinicians.
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100 {{box title="**Contents**"}}
101 {{toc/}}
102 {{/box}}
103
104 == Main contents: ==
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106 * `/docs`: Documentation and contribution guidelines.
107 * `/code`: Machine learning pipelines and scripts.
108 * `/data`: Sample datasets for testing.
109 * `/outputs`: Generated models, visualizations, and reports.
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