Interpretable Machine Learning for Predicting Multiple Sclerosis Conversion from Clinically Isolated Syndrome (2024)

Type of publication:
Journal article

Author(s):
Daniel E.C.; Tirunagari S.; Batth K.; Windridge D.; *Balla Y.

Citation:
medRxiv. (no pagination), 2024. Date of Publication: 19 Jul 2024. [preprint]

Abstract:
Background: Machine learning (ML) prediction of clinically isolated syndrome (CIS) conversion to multiple sclerosis (MS) could be used as a remote, preliminary tool by clinicians to identify high-risk patients that would benefit from early treatment. Objective(s): This study evaluates ML models to predict CIS to MS conversion and identifies key predictors. Method(s): Five supervised learning techniques (Naive Bayes, Logistic Regression, Decision Trees, Random Forests and Support Vector Machines) were applied to clinical data from 138 Lithuanian and 273 Mexican CIS patients. Seven different feature combinations were evaluated to determine the most effective models and predictors. Result(s): Key predictors common to both datasets included sex, presence of oligoclonal bands in CSF, MRI spinal lesions, abnormal visual evoked potentials and brainstem auditory evoked potentials. The Lithuanian dataset confirmed predictors identified by previous clinical research, while the Mexican dataset partially validated them. The highest F1 score of 1.0 was achieved using Random Forests on all features for the Mexican dataset and Logistic Regression with SMOTE Upsampling on all features for the Lithuanian dataset. Conclusion(s): Applying the identified high-performing ML models to the CIS patient datasets shows potential in assisting clinicians to identify high-risk patients.

Link to full-text [open access - no password required]

The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders (2023)

Type of publication:Journal article

Author(s):Abdallah, Shenouda; Sharifa, Mouhammad; I Kh Almadhoun, Mohammed Khaleel; Khawar, Muhammad Muneeb Sr; Shaikh, Unzla; Balabel, Khaled M; Saleh, Inam; Manzoor, Amima; Mandal, Arun Kumar; *Ekomwereren, Osatohanmwen; Khine, Wai Mon; Oyelaja, Oluwaseyi T.

Citation:Cureus. 15(10):e46860, 2023 Oct.

Abstract:Rare genetic disorders (RDs), characterized by their low prevalence and diagnostic complexities, present significant challenges to healthcare systems. This article explores the transformative impact of artificial intelligence (AI) and machine learning (ML) in addressing these challenges. It emphasizes the need for accurate and early diagnosis of RDs, often hindered by genetic and clinical heterogeneity. This article discusses how AI and ML are reshaping healthcare, providing examples of their effectiveness in disease diagnosis, prognosis, image analysis, and drug repurposing. It highlights AI's ability to efficiently analyze extensive datasets and expedite diagnosis, showcasing case studies like Face2Gene. Furthermore, the article explores how AI tailors treatment plans for RDs, leveraging ML and deep learning (DL) to create personalized therapeutic regimens. It emphasizes AI's role in drug discovery, including the identification of potential candidates for rare disease treatments. Challenges and limitations related to AI in healthcare, including ethical, legal, technical, and human aspects, are addressed. This article underscores the importance of data ethics, privacy, and algorithmic fairness, as well as the need for standardized evaluation techniques and transparency in AI research. It highlights second-generation AI systems that prioritize patient-centric care, efficient patient recruitment for clinical trials, and the significance of high-quality data. The integration of AI with telemedicine, the growth of health databases, and the potential for personalized therapeutic recommendations are identified as promising directions for the field. In summary, this article provides a comprehensive exploration of how AI and ML are revolutionizing the diagnosis and treatment of RDs, addressing challenges while considering ethical implications in this rapidly evolving healthcare landscape.

Link to full-text [open access - no password required]

Altmetrics: