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Explainable artificial hydrocarbon networks classifier applied to preeclampsia

2024 , Ponce, Hiram , Martinez-Villaseñor, Lourdes , Martínez Velasco, Antonieta Teodora

Explainability is crucial in domains where system decisions have significant implications for human trust in black-box models. Lack of understanding regarding how these decisions are made hinders the adoption of so-called clinical decision support systems. While neural networks and deep learning methods exhibit impressive performance, they remain less explainable than white-box approaches. Artificial Hydrocarbon Networks (AHN) is an effective black-box model that can be used to support critical clinical decisions if accompanied by explainability mechanisms to instill confidence among clinicians. In this paper, we present a use case involving global and local explanations for AHN models, provided with an automatic procedure so-called eXplainable Artificial Hydrocarbon Networks (XAHN). We apply XAHN to preeclampsia prognosis, enabling interpretability within an accurate black-box model. Our approach involves training a suitable AHN model using the cross-validation with ten repetitions, followed by a comparative analysis against four well-known machine learning techniques. Notably, the AHN model outperformed the others, achieving an F1-score of 74.91%. Additionally, we assess the efficacy of our XAHN explainer through a survey applied to clinicians, evaluating the goodness and satisfaction of the provided explanations. To the best of our knowledge, this work represents one of the earliest attempts to address the explainability challenge in preeclampsia prediction.© 2024 The Author(s). Published by Elsevier Inc.

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Machine learning method to establish the connection between age related macular degeneration and some genetic variations

2016 , Martínez Velasco, Antonieta Teodora , Zenteno, Juan Carlos , Martinez-Villaseñor, Lourdes , Miralles-Pechuán, Luis , Pérez Ortiz, Andric Christopher , Estrada Mena, Francisco Javier

Medicine research based in machine learning methods allows the improvement of diagnosis in complex diseases. Age related Macular Degeneration (AMD) is one of them. AMD is the leading cause of blindness in the world. It causes the 8.7% of blind people. A set of case and controls study could be developed by machine-learning methods to find the relation between Single Nucleotide Polymorphisms (SNPs) SNP_A, SNP_B, SNP_C and AMD. In this paper we present a machine-learning based analysis to determine the relation of three single nucleotide SNPs and the AMD disease. The SNPs SNP_B, SNP_C remained in the top four relevant features with ophthalmologic surgeries and bilateral cataract. We aim also to determine the best set of features for the classification process. © Springer International Publishing AG 2016.

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An Explainable Tool to Support Age-related Macular Degeneration Diagnosis

2022 , Martinez-Villaseñor, Lourdes , Miralles-Pechuán, Luis , Ponce, Hiram , Martínez Velasco, Antonieta Teodora

Artificial intelligence and deep learning, in particu-lar, have gained large attention in the ophthalmology community due to the possibility of processing large amounts of data and dig-itized ocular images. Intelligent systems are developed to support the diagnosis and treatment of a number of ophthalmic diseases such as age-related macular degeneration (AMD), glaucoma and retinopathy of prematurity. Hence, explainability is necessary to gain trust and therefore the adoption of these critical decision support systems. Visual explanations have been proposed for AMD diagnosis only when optical coherence tomography (OCT) images are used, but interpretability using other inputs (i.e. data point-based features) for AMD diagnosis is rather limited. In this paper, we propose a practical tool to support AMD diagnosis based on Artificial Hydrocarbon Networks (AHN) with different kinds of input data such as demographic characteristics, features known as risk factors for AMD, and genetic variants obtained from DNA genotyping. The proposed explainer, namely eXplainable Artificial Hydrocarbon Networks (XAHN) is able to get global and local interpretations of the AHN model. An explainability assessment of the XAHN explainer was applied to clinicians for getting feedback from the tool. We consider the XAHN explainer tool will be beneficial to support expert clinicians in AMD diagnosis, especially where input data are not visual. © 2022 IEEE.

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Machine Learning Approach for Pre-Eclampsia Risk Factors Association

2018 , Martínez Velasco, Antonieta Teodora , Martinez-Villaseñor, Lourdes , Miralles-Pechuán, Luis

The preeclampsia/eclampsia syndrome is a multisystem disorder that usually includes cardiovascular changes, hematologic abnormalities, hepatic and renal impairment, and neurologic or cerebral manifestations. Preeclampsia (PE) is a clinical syndrome that afflicts 3–5% of pregnancies and it is a leading cause of maternal mortality, especially in developing countries. To understand in greater depth the preeclampsia/eclampsia syndrome, we applied some well-known Machine Learning (ML) techniques. ML has been successfully applied to medical research to improve the diagnosis and the prevention of complex diseases and syndromes. In our contribution, we have created a supervised model to predict if a patient suffers the disease. This model has been optimized by selecting the best features and by optimizing the threshold when predicting a class. We used these techniques to point out the most related features of the patients to the disease. Finally, we used interpretability techniques to extract and visualize through a decision tree the most relevant associations of the disease with the patients' features. © 2018 Association for Computing Machinery.

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A Survey of Machine Learning Approaches for Age Related Macular Degeneration Diagnosis and Prediction

2018 , Martínez Velasco, Antonieta Teodora , Martinez-Villaseñor, Lourdes

Age Related Macular Degeneration (AMD) is a complex disease caused by the interaction of multiple genes and environmental factors. AMD is the leading cause of visual dysfunction and blindness in developed countries, and a rising cause in underdeveloped countries. Currently, retinal images are studied in order to identify drusen in the retina. The classification of these images allows to support the medical diagnosis. Likewise, genetic variants and risk factors are studied in order to make predictive studies of the disease, which are carried out with the support of statistical tools and, recently, with Machine Learning (ML) methods. In this paper, we present a survey of studies performed in complex diseases under both approaches, especially for the case of AMD. We emphasize the approach based on the genetic variants of individuals, as it is a support tool for the prevention of AMD. According to the vision of personalized medicine, disease prevention is a priority to improve the quality of life of people and their families, as well as to avoid the inherent health burden. © Springer Nature Switzerland AG 2018.

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The Relevance of Cataract as a Risk Factor for Age-Related Macular Degeneration: A Machine Learning Approach

2019 , Martínez Velasco, Antonieta Teodora , Martinez-Villaseñor, Lourdes , Miralles-Pechuán, Luis , Pérez Ortiz, Andric Christopher , Zenteno, Juan Carlos , Estrada Mena, Francisco Javier

Age-related macular degeneration (AMD) is the leading cause of visual dysfunction and irreversible blindness in developed countries and a rising cause in underdeveloped countries. There is a current debate on whether or not cataracts are significant risk factors for AMD development. In particular, research regarding this association is so far inconclusive. For this reason, we aimed to employ here a machine-learning approach to analyze the relevance and importance of cataracts as a risk factor for AMD in a large cohort of Hispanics from Mexico. We conducted a nested case control study of 119 cataract cases and 137 healthy unmatched controls focusing on clinical data from electronic medical records. Additionally, we studied two single nucleotide polymorphisms in the CFH gene previously associated with the disease in various populations as positive control for our method. We next determined the most relevant variables and found the bivariate association between cataracts and AMD. Later, we used supervised machine-learning methods to replicate these findings without bias. To improve the interpretability, we detected the five most relevant features and displayed them using a bar graph and a rule-based tree. Our findings suggest that bilateral cataracts are not a significant risk factor for AMD development among Hispanics from Mexico. © 2019 by the authors.

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Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches

2020 , Martínez Velasco, Antonieta Teodora , Pérez Ortiz, Andric Christopher , Antonio-Aguirre, Bani , Martinez-Villaseñor, Lourdes , Palacio-Pastrana, Claudia , Lira, Esmeralda , Zenteno, Juan Carlos , Ramírez-Sánchez, Israel , Zepeda-Palacio, Claudia , Mendoza Vera, Cristina Azucena , Camacho-Ordóñez, Azyadeh , Ortiz Bibriesca, Daniela , Estrada Mena, Francisco Javier

CFH: and HTRA1 are pivotal genes driving increased risk for age-related macular degeneration (AMD) among several populations. Here, we performed a hospital-based case-control study to evaluate the effects of three single nucleotide polymorphisms (SNPs) among Hispanics from Mexico. Materials and methods: 122 cases and 249 controls were genotyped using Taqman probes. Experienced ophthalmologists diagnosed AMD following the American Association of Ophthalmology guidelines. We studied CFH (rs1329428, rs203687) and HTRA1 (rs11200638) SNPs thoroughly by logistic regression models (assuming different modes of inheritance) and machine learning-based methods (ML). HTRA1: rs11200638 is the most significant polymorphism associated with AMD in our studied population. In a multivariate regression model adjusted for clinically and statistically meaningful covariates, the A/G and A/A genotypes increased the odds of disease by a factor of 2.32 and 7.81, respectively (P < .05) suggesting a multiplicative effect of the polymorphic A allele. Furthermore, this observation remains statistically meaningful in the allelic, dominant, and recessive models, and ML algorithms. When stratifying by phenotype, this polymorphism was significantly associated with increased odds for geographic atrophy (GA) in a recessive mode of inheritance (12.4, p < .05). Conclusions: In sum, this work supports a strong association between HTRA1 genetic variants and AMD in Hispanics from Mexico, especially with GA. Moreover, ML was able to replicate the results of conventional biostatistics methods unbiasedly. © 2020 Taylor & Francis Group, LLC.