Wiki source code of Neurodiagnoses
Version 6.1 by manuelmenendez on 2025/01/27 23:21
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5 | = **Neurodiagnoses** | ||
6 | //A new tridimensional diagnostic framework for CNS conditions// = | ||
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8 | 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. | ||
9 | We aim to create a structured, interpretable, and scalable diagnostic tool. | ||
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17 | = What is this about and what can I find here? = | ||
18 | |||
19 | ==== **Overview** ==== | ||
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21 | The //Tridimensional Diagnostic Framework// redefines how neurodegenerative diseases (NDDs) are classified by focusing on: | ||
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23 | * **Axis 1**: Etiology (genetic/sporadic and environmental factors). | ||
24 | * **Axis 2**: Molecular Markers (biomarkers and proteinopathies). | ||
25 | * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system). | ||
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27 | This methodology enables: | ||
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29 | * Greater precision in diagnosis. | ||
30 | * Integration of incomplete datasets using AI-driven probabilistic modeling. | ||
31 | * Stratification of patients for personalized treatment. | ||
32 | |||
33 | ==== **Diagnostic Axes** ==== | ||
34 | |||
35 | * ((( | ||
36 | **Axis 1: Etiology** | ||
37 | |||
38 | * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers. | ||
39 | * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression. | ||
40 | * //Tests//: Genetic testing, lifestyle and cardiovascular screening. | ||
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43 | **Axis 2: Molecular Markers** | ||
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45 | * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression. | ||
46 | * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology. | ||
47 | * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET). | ||
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50 | **Axis 3: Neuroanatomoclinical** | ||
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52 | * //Description//: Links clinical symptoms to neuroanatomical changes, such as atrophy or functional impairments. | ||
53 | * //Examples//: Hippocampal atrophy correlating with memory deficits. | ||
54 | * //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations. | ||
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56 | |||
57 | ==== **Case Studies** ==== | ||
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60 | **Sporadic Alzheimer’s Disease**: | ||
61 | |||
62 | * Axis 1: Sporadic (ApoE4, poor sleep habits). | ||
63 | * Axis 2: Amyloid-beta plaques, elevated NFL. | ||
64 | * Axis 3: Right hippocampus atrophy (visual memory loss). | ||
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67 | **Genetic Parkinson’s Disease**: | ||
68 | |||
69 | * Axis 1: Genetic (LRRK2 mutation). | ||
70 | * Axis 2: Alpha-synuclein aggregation. | ||
71 | * Axis 3: Substantia nigra degeneration (motor dysfunction). | ||
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73 | |||
74 | ==== **Applications** ==== | ||
75 | |||
76 | This system enhances: | ||
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78 | * **Research**: By stratifying patients, it reduces cohort heterogeneity in clinical trials. | ||
79 | * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking. | ||
80 | |||
81 | == Who has access? == | ||
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83 | We welcome contributions from the global community. Let’s build the future of neurological diagnostics together! | ||
84 | |||
85 | == How to Contribute: == | ||
86 | |||
87 | * Access the `/docs` folder for guidelines. | ||
88 | * Use `/code` for the latest AI pipelines. | ||
89 | * Share feedback and ideas in the wiki discussion pages. | ||
90 | |||
91 | == Key Objectives: == | ||
92 | |||
93 | * Develop interpretable AI models for diagnosis and progression tracking. | ||
94 | * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources. | ||
95 | * Foster collaboration among neuroscientists, AI researchers, and clinicians. | ||
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101 | {{box title="**Contents**"}} | ||
102 | {{toc/}} | ||
103 | {{/box}} | ||
104 | |||
105 | == Main contents: == | ||
106 | |||
107 | * `/docs`: Documentation and contribution guidelines. | ||
108 | * `/code`: Machine learning pipelines and scripts. | ||
109 | * `/data`: Sample datasets for testing. | ||
110 | * `/outputs`: Generated models, visualizations, and reports. | ||
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