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Brain microstructural changes already occur in the earliest phases of Alzheimer's disease (AD) as evidenced in diffusion magnetic resonance imaging (dMRI) literature. This study investigates the potential of the novel dMRI Apparent Measures Using Reduced Acquisitions (AMURA) as imaging markers for capturing such tissue modifications.Tract-based spatial statistics (TBSS) and support vector machines (SVMs) based on different measures were exploited to distinguish between amyloid-beta/tau negative (A[Formula: see text]-/tau-) and A[Formula: see text]+/tau+ or A[Formula: see text]+/tau- subjects. Moreover, eXplainable Artificial Intelligence (XAI) was used to highlight the most influential features in the SVMs classifications and to validate the results by seeing the explanations' recurrence across different methods.TBSS analysis revealed significant differences between A[Formula: see text]-/tau- and other groups in line with the literature. The best SVM classification performance reached an accuracy of 0.73 by using advanced measures compared to more standard ones. Moreover, the explainability analysis suggested the results' stability and the central role of the cingulum to show early sign of AD.By relying on SVM classification and XAI interpretation of the outcomes, AMURA indices can be considered viable markers for amyloid and tau pathology. Clinical impact: This pre-clinical research revealed AMURA indices as viable imaging markers for timely AD diagnosis by acquiring clinically feasible dMR images, with advantages compared to more invasive methods employed nowadays.
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Enfermedad de Alzheimer , Péptidos beta-Amiloides , Encéfalo , Máquina de Vectores de Soporte , Proteínas tau , Enfermedad de Alzheimer/diagnóstico por imagen , Enfermedad de Alzheimer/metabolismo , Enfermedad de Alzheimer/patología , Humanos , Proteínas tau/metabolismo , Proteínas tau/análisis , Péptidos beta-Amiloides/metabolismo , Masculino , Femenino , Anciano , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encéfalo/metabolismo , Interpretación de Imagen Asistida por Computador/métodos , Imagen de Difusión por Resonancia Magnética/métodosRESUMEN
Explainable artificial intelligence (XAI) elucidates the decision-making process of complex AI models and is important in building trust in model predictions. XAI explanations themselves require evaluation as to accuracy and reasonableness and in the context of use of the underlying AI model. This review details the evaluation of XAI in cardiac AI applications and has found that, of the studies examined, 37% evaluated XAI quality using literature results, 11% used clinicians as domain-experts, 11% used proxies or statistical analysis, with the remaining 43% not assessing the XAI used at all. We aim to inspire additional studies within healthcare, urging researchers not only to apply XAI methods but to systematically assess the resulting explanations, as a step towards developing trustworthy and safe models. Supplementary Information: The online version contains supplementary material available at 10.1007/s10462-024-10852-w.
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Alzheimer's disease (AD) is the most prevalent form of dementia, affecting millions worldwide with a progressive decline in cognitive abilities. The AD continuum encompasses a prodormal stage known as Mild Cognitive Impairment (MCI), where patients may either progress to AD (MCIc) or remain stable (MCInc). Understanding the underlying mechanisms of AD requires complementary analysis derived from different data sources, leading to the development of multimodal deep learning models. In this study, we leveraged structural and functional Magnetic Resonance Imaging (sMRI/fMRI) to investigate the disease-induced grey matter and functional network connectivity changes. Moreover, considering AD's strong genetic component, we introduce Single Nucleotide Polymorphisms (SNPs) as a third channel. Given such diverse inputs, missing one or more modalities is a typical concern of multimodal methods. We hence propose a novel deep learning based classification framework where generative module employing Cycle Generative Adversarial Networks (cGAN) was adopted to impute missing data within the latent space. Additionally, we adopted an Explainable Artificial Intelligence (XAI) method, Integrated Gradients (IG), to extract input features relevance, enhancing our understanding of the learned representations. Two critical tasks were addressed: AD detection and MCI conversion prediction. Experimental results showed that our framework was able to reach the state-of-the-art in the classification of CN vs AD reaching an average test accuracy of 0.926 ± 0.02. For the MCInc vs MCIc task, we achieved an average prediction accuracy of 0.711 ± 0.01 using the pre-trained model for CN and AD. The interpretability analysis revealed that the classification performance was led by significant grey matter modulations in cortical and subcortical brain areas well known for their association with AD. Moreover, impairments in sensory-motor and visual resting state network connectivity along the disease continuum, as well as mutations in SNPs defining biological processes linked to amyloid-beta and cholesterol formation clearance and regulation, were identified as contributors to the achieved performance. Overall, our integrative deep learning approach shows promise for AD detection and MCI prediction, while shading light on important biological insights.
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Explainable Artificial Intelligence (XAI) provides tools to help understanding how AI models work and reach a particular decision or outcome. It helps to increase the interpretability of models and makes them more trustworthy and transparent. In this context, many XAI methods have been proposed to make black-box and complex models more digestible from a human perspective. However, one of the main issues that XAI methods have to face especially when dealing with a high number of features is the presence of multicollinearity, which casts shadows on the robustness of the XAI outcomes, such as the ranking of informative features. Most of the current XAI methods either do not consider the collinearity or assume the features are independent which, in general, is not necessarily true. Here, we propose a simple, yet useful, proxy that modifies the outcome of any XAI feature ranking method allowing to account for the dependency among the features, and to reveal their impact on the outcome. The proposed method was applied to SHAP, as an example of XAI method which assume that the features are independent. For this purpose, several models were exploited for a well-known classification task (males versus females) using nine cardiac phenotypes extracted from cardiac magnetic resonance imaging as features. Principal component analysis and biological plausibility were employed to validate the proposed method. Our results showed that the proposed proxy could lead to a more robust list of informative features compared to the original SHAP in presence of collinearity.
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PURPOSE: Arterial spin labeling (ASL) represents a noninvasive perfusion biomarker, and, in the study of nonvascular disease, the use of the single-timepoint ASL technique is recommended. However, the obtained cerebral blood flow (CBF) maps may be highly influenced by delayed arterial transit time (ATT). Our aim was to assess the complexity of hemodynamic information of single-timepoint CBF maps using a new visual scale and comparing it with an ATT proxy, the "coefficient of spatial variation" (sCoV). MATERIAL AND METHODS: Individual CBF maps were estimated in a memory clinic population (mild cognitive impairment, dementia and cognitively unimpaired controls) and classified into four levels of delayed perfusion based on a visual rating scale. Calculated measures included global/regional sCoVs and common CBF statistics, as mean, median and standard deviation. One-way ANOVA was performed to compare these measures across the four groups of delayed perfusion. Spearman correlation was used to study the association of global sCoV with clinical data and CBF statistics. RESULTS: One hundred and forty-four participants (72 ± 7 years, 53% women) were included in the study. The proportion of maps with none, mild, moderate, and severe delayed perfusion was 15, 20, 37, and 28%, respectively. SCoV demonstrated a significant increase (p < 0.05) across the four groups, except when comparing none vs mild delayed perfusion groups (pBonf > 0.05). Global sCoV values, as an ATT proxy, ranged from 67 ± 4% (none) to 121 ± 24% (severe delayed) and were significantly associated with age and CBF statistics (p < 0.05). CONCLUSION: The impact of ATT delay in single-time CBF maps requires the use of a visual scale or sCoV in clinical or research settings.
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Arterias , Imagen por Resonancia Magnética , Humanos , Femenino , Masculino , Imagen por Resonancia Magnética/métodos , Marcadores de Spin , Hemodinámica/fisiología , Circulación Cerebrovascular/fisiologíaRESUMEN
BACKGROUND: Existing research demonstrates the association of shorter leukocyte telomere length with increased risk of age-related health outcomes including cardiovascular diseases. However, the direct causality of these relationships has not been definitively established. Cardiovascular aging at an organ level may be captured using image-derived phenotypes of cardiac anatomy and function. METHODS AND RESULTS: In the current study, we use 2-sample Mendelian randomization to assess the causal link between leukocyte telomere length and 54 cardiac magnetic resonance imaging measures representing structure and function across the 4 cardiac chambers. Genetically predicted shorter leukocyte telomere length was causally linked to smaller ventricular cavity sizes including left ventricular end-systolic volume, left ventricular end-diastolic volume, lower left ventricular mass, and pulmonary artery. The association with left ventricular mass (ß =0.217, Pfalse discovery rate=0.016) remained significant after multiple testing adjustment, whereas other associations were attenuated. CONCLUSIONS: Our findings support a causal role for shorter leukocyte telomere length and faster cardiac aging, with the most prominent relationship with left ventricular mass.
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Corazón , Análisis de la Aleatorización Mendeliana , Análisis de la Aleatorización Mendeliana/métodos , Leucocitos , Telómero/genética , Estudio de Asociación del Genoma CompletoRESUMEN
Federated learning is a cooperative learning approach that has emerged as an effective way to address privacy concerns. Here, we present a protocol for training MERGE: a federated multi-input neural network (NN) for COVID-19 prognosis. We describe steps for collecting and preprocessing datasets. We then detail the process of training a multi-input NN. This protocol can be adapted for use with datasets containing both image- and table-based input sources. For complete details on the use and execution of this protocol, please refer to Casella et al.1.
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COVID-19 , Humanos , Aprendizaje , Redes Neurales de la ComputaciónRESUMEN
The joint modeling of genetic data and brain imaging information allows for determining the pathophysiological pathways of neurodegenerative diseases such as Alzheimer's disease (AD). This task has typically been approached using mass-univariate methods that rely on a complete set of Single Nucleotide Polymorphisms (SNPs) to assess their association with selected image-derived phenotypes (IDPs). However, such methods are prone to multiple comparisons bias and, most importantly, fail to account for potential cross-feature interactions, resulting in insufficient detection of significant associations. Ways to overcome these limitations while reducing the number of traits aim at conveying genetic information at the gene level and capturing the integrated genetic effects of a set of genetic variants, rather than looking at each SNP individually. Their associations with brain IDPs are still largely unexplored in the current literature, though they can uncover new potential genetic determinants for brain modulations in the AD continuum. In this work, we explored an explainable multivariate model to analyze the genetic basis of the grey matter modulations, relying on the AD Neuroimaging Initiative (ADNI) phase 3 dataset. Cortical thicknesses and subcortical volumes derived from T1-weighted Magnetic Resonance were considered to describe the imaging phenotypes. At the same time the genetic counterpart was represented by gene variant scores extracted by the Sequence Kernel Association Test (SKAT) filtering model. Moreover, transcriptomic analysis was carried on to assess the expression of the resulting genes in the main brain structures as a form of validation. Results highlighted meaningful genotype-phenotype interactionsas defined by three latent components showing a significant difference in the projection scores between patients and controls. Among the significant associations, the model highlighted EPHX1 and BCAS1 gene variant scores involved in neurodegenerative and myelination processes, hence relevant for AD. In particular, the first was associated with decreased subcortical volumes and the second with decreasedtemporal lobe thickness. Noteworthy, BCAS1 is particularly expressed in the dentate gyrus. Overall, the proposed approach allowed capturing genotype-phenotype interactions in a restricted study cohort that was confirmed by transcriptomic analysis, offering insights into the underlying mechanisms of neurodegeneration in AD in line with previous findings and suggesting new potential disease biomarkers.
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Enfermedad de Alzheimer , Humanos , Enfermedad de Alzheimer/diagnóstico por imagen , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/patología , Neuroimagen/métodos , Imagen por Resonancia Magnética/métodos , Encéfalo/diagnóstico por imagen , Atrofia/patología , Proteínas de NeoplasiasRESUMEN
(1) Background: Transcranial magnetic stimulation combined with electroencephalography (TMS-EEG) provides a unique opportunity to investigate brain connectivity. However, possible hemispheric asymmetries in signal propagation dynamics following occipital TMS have not been investigated. (2) Methods: Eighteen healthy participants underwent occipital single-pulse TMS at two different EEG sites, corresponding to early visual areas. We used a state-of-the-art Bayesian estimation approach to accurately estimate TMS-evoked potentials (TEPs) from EEG data, which has not been previously used in this context. To capture the rapid dynamics of information flow patterns, we implemented a self-tuning optimized Kalman (STOK) filter in conjunction with the information partial directed coherence (iPDC) measure, enabling us to derive time-varying connectivity matrices. Subsequently, graph analysis was conducted to assess key network properties, providing insight into the overall network organization of the brain network. (3) Results: Our findings revealed distinct lateralized effects on effective brain connectivity and graph networks after TMS stimulation, with left stimulation facilitating enhanced communication between contralateral frontal regions and right stimulation promoting increased intra-hemispheric ipsilateral connectivity, as evidenced by statistical test (p < 0.001). (4) Conclusions: The identified hemispheric differences in terms of connectivity provide novel insights into brain networks involved in visual information processing, revealing the hemispheric specificity of neural responses to occipital stimulation.
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Electroencefalografía , Potenciales Evocados , Humanos , Teorema de Bayes , Potenciales Evocados/fisiología , Estimulación Magnética Transcraneal , Encéfalo/fisiologíaRESUMEN
Driven by the deep learning (DL) revolution, artificial intelligence (AI) has become a fundamental tool for many biomedical tasks, including analyzing and classifying diagnostic images. Imaging, however, is not the only source of information. Tabular data, such as personal and genomic data and blood test results, are routinely collected but rarely considered in DL pipelines. Nevertheless, DL requires large datasets that often must be pooled from different institutions, raising non-trivial privacy concerns. Federated learning (FL) is a cooperative learning paradigm that aims to address these issues by moving models instead of data across different institutions. Here, we present a federated multi-input architecture using images and tabular data as a methodology to enhance model performance while preserving data privacy. We evaluated it on two showcases: the prognosis of COVID-19 and patients' stratification in Alzheimer's disease, providing evidence of enhanced accuracy and F1 scores against single-input models and improved generalizability against non-federated models.
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(1) Background: in the field of motor-imagery brain-computer interfaces (MI-BCIs), obtaining discriminative features among multiple MI tasks poses a significant challenge. Typically, features are extracted from single electroencephalography (EEG) channels, neglecting their interconnections, which leads to limited results. To address this limitation, there has been growing interest in leveraging functional brain connectivity (FC) as a feature in MI-BCIs. However, the high inter- and intra-subject variability has so far limited its effectiveness in this domain. (2) Methods: we propose a novel signal processing framework that addresses this challenge. We extracted translation-invariant features (TIFs) obtained from a scattering convolution network (SCN) and brain connectivity features (BCFs). Through a feature fusion approach, we combined features extracted from selected channels and functional connectivity features, capitalizing on the strength of each component. Moreover, we employed a multiclass support vector machine (SVM) model to classify the extracted features. (3) Results: using a public dataset (IIa of the BCI Competition IV), we demonstrated that the feature fusion approach outperformed existing state-of-the-art methods. Notably, we found that the best results were achieved by merging TIFs with BCFs, rather than considering TIFs alone. (4) Conclusions: our proposed framework could be the key for improving the performance of a multiclass MI-BCI system.
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Interfaces Cerebro-Computador , Encéfalo , Electroencefalografía , Imágenes en Psicoterapia , Procesamiento de Señales Asistido por ComputadorRESUMEN
BACKGROUND: Ischemic heart disease (IHD) has been linked with poor brain outcomes. The brain magnetic resonance imaging-derived difference between predicted brain age and actual chronological age (brain-age delta in years, positive for accelerated brain aging) may serve as an effective means of communicating brain health to patients to promote healthier lifestyles. OBJECTIVES: The authors investigated the impact of prevalent IHD on brain aging, potential underlying mechanisms, and its relationship with dementia risk, vascular risk factors, cardiovascular structure, and function. METHODS: Brain age was estimated in subjects with prevalent IHD (n = 1,341) using a Bayesian ridge regression model with 25 structural (volumetric) brain magnetic resonance imaging features and built using UK Biobank participants with no prevalent IHD (n = 35,237). RESULTS: Prevalent IHD was linked to significantly accelerated brain aging (P < 0.001) that was not fully mediated by microvascular injury. Brain aging (positive brain-age delta) was associated with increased risk of dementia (OR: 1.13 [95% CI: 1.04-1.22]; P = 0.002), vascular risk factors (such as diabetes), and high adiposity. In the absence of IHD, brain aging was also associated with cardiovascular structural and functional changes typically observed in aging hearts. However, such alterations were not linked with risk of dementia. CONCLUSIONS: Prevalent IHD and coexisting vascular risk factors are associated with accelerated brain aging and risk of dementia. Positive brain-age delta representing accelerated brain aging may serve as an effective communication tool to show the impact of modifiable risk factors and disease supporting preventative strategies.
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Demencia , Isquemia Miocárdica , Humanos , Teorema de Bayes , Valor Predictivo de las Pruebas , Isquemia Miocárdica/diagnóstico por imagen , Isquemia Miocárdica/epidemiología , Isquemia Miocárdica/complicaciones , Factores de Riesgo , Envejecimiento/patología , Encéfalo/diagnóstico por imagen , Demencia/epidemiología , Demencia/complicacionesRESUMEN
While stroke is one of the leading causes of disability, the prediction of upper limb (UL) functional recovery following rehabilitation is still unsatisfactory, hampered by the clinical complexity of post-stroke impairment. Predictive models leading to accurate estimates while revealing which features contribute most to the predictions are the key to unveil the mechanisms subserving the post-intervention recovery, prompting a new focus on individualized treatments and precision medicine in stroke. Machine learning (ML) and explainable artificial intelligence (XAI) are emerging as the enabling technology in different fields, being promising tools also in clinics. In this study, we had the twofold goal of evaluating whether ML can allow deriving accurate predictions of UL recovery in sub-acute patients, and disentangling the contribution of the variables shaping the outcomes. To do so, Random Forest equipped with four XAI methods was applied to interpret the results and assess the feature relevance and their consensus. Our results revealed increased performance when using ML compared to conventional statistical approaches. Moreover, the features deemed as the most relevant were concordant across the XAI methods, suggesting good stability of the results. In particular, the baseline motor impairment as measured by simple clinical scales had the largest impact, as expected. Our findings highlight the core role of ML not only for accurately predicting the individual outcome scores after rehabilitation, but also for making ML results interpretable when associated to XAI methods. This provides clinicians with robust predictions and reliable explanations that are key factors in therapeutic planning/monitoring of stroke patients.
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Rehabilitación de Accidente Cerebrovascular , Accidente Cerebrovascular , Humanos , Rehabilitación de Accidente Cerebrovascular/métodos , Inteligencia Artificial , Extremidad Superior , Resultado del TratamientoRESUMEN
Recent evidence suggests that shorter telomere length (TL) is associated with neuro degenerative diseases and aging related outcomes. The causal association between TL and brain characteristics represented by image derived phenotypes (IDPs) from different magnetic resonance imaging (MRI) modalities remains unclear. Here, we use two-sample Mendelian randomization (MR) to systematically assess the causal relationships between TL and 3,935 brain IDPs. Overall, the MR results suggested that TL was causally associated with 193 IDPs with majority representing diffusion metrics in white matter tracts. 68 IDPs were negatively associated with TL indicating that longer TL causes decreasing in these IDPs, while the other 125 were associated positively (longer TL leads to increased IDPs measures). Among them, ten IDPs have been previously reported as informative biomarkers to estimate brain age. However, the effect direction between TL and IDPs did not reflect the observed direction between aging and IDPs: longer TL was associated with decreases in fractional anisotropy and increases in axial, radial and mean diffusivity. For instance, TL was positively associated with radial diffusivity in the left perihippocampal cingulum tract and with mean diffusivity in right perihippocampal cingulum tract. Our results revealed a causal role of TL on white matter integrity which makes it a valuable factor to be considered when brain age is estimated and investigated.
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Encéfalo , Análisis de la Aleatorización Mendeliana , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Imagen por Resonancia Magnética , Fenotipo , TelómeroRESUMEN
We developed a novel interpretable biological heart age estimation model using cardiovascular magnetic resonance radiomics measures of ventricular shape and myocardial character. We included 29,996 UK Biobank participants without cardiovascular disease. Images were segmented using an automated analysis pipeline. We extracted 254 radiomics features from the left ventricle, right ventricle, and myocardium of each study. We then used Bayesian ridge regression with tenfold cross-validation to develop a heart age estimation model using the radiomics features as the model input and chronological age as the model output. We examined associations of radiomics features with heart age in men and women, observing sex-differential patterns. We subtracted actual age from model estimated heart age to calculate a "heart age delta", which we considered as a measure of heart aging. We performed a phenome-wide association study of 701 exposures with heart age delta. The strongest correlates of heart aging were measures of obesity, adverse serum lipid markers, hypertension, diabetes, heart rate, income, multimorbidity, musculoskeletal health, and respiratory health. This technique provides a new method for phenotypic assessment relating to cardiovascular aging; further studies are required to assess whether it provides incremental risk information over current approaches.
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Corazón , Imagen por Resonancia Magnética , Teorema de Bayes , Femenino , Corazón/diagnóstico por imagen , Corazón/fisiología , Ventrículos Cardíacos/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética , Masculino , Estudios RetrospectivosRESUMEN
BACKGROUND: The mechanisms driving primary progressive and relapsing-remitting multiple sclerosis (PPMS/RRMS) phenotypes are unknown. Magnetic resonance imaging (MRI) studies support the involvement of gray matter (GM) in the degeneration, highlighting its damage as an early feature of both phenotypes. However, the role of GM microstructure is unclear, calling for new methods for its decryption. PURPOSE: To investigate the morphometric and microstructural GM differences between PPMS and RRMS to characterize GM tissue degeneration using MRI. STUDY TYPE: Prospective cross-sectional study. SUBJECTS: Forty-five PPMS (26 females) and 45 RRMS (32 females) patients. FIELD STRENGTH/SEQUENCE: 3T scanner. Three-dimensional (3D) fast field echo T1-weighted (T1-w), 3D turbo spin echo (TSE) T2-w, 3D TSE fluid-attenuated inversion recovery, and spin echo-echo planar imaging diffusion MRI (dMRI). ASSESSMENT: T1-w and dMRI data were employed for providing information about morphometric and microstructural features, respectively. For dMRI, both diffusion tensor imaging and 3D simple harmonics oscillator based reconstruction and estimation models were used for feature extraction from a predefined set of regions. A support vector machine (SVM) was used to perform patients' classification relying on all these measures. STATISTICAL TESTS: Differences between MS phenotypes were investigated using the analysis of covariance and statistical tests (P < 0.05 was considered statistically significant). RESULTS: All the dMRI indices showed significant microstructural alterations between the considered MS phenotypes, for example, the mode and the median of the return to the plane probability in the hippocampus. Conversely, thalamic volume was the only morphometric feature significantly different between the two MS groups. Ten of the 12 features retained by the selection process as discriminative across the two MS groups regarded the hippocampus. The SVM classifier using these selected features reached an accuracy of 70% and a precision of 69%. DATA CONCLUSION: We provided evidence in support of the ability of dMRI to discriminate between PPMS and RRMS, as well as highlight the central role of the hippocampus. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY STAGE: 3.
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Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Estudios Transversales , Imagen de Difusión Tensora , Humanos , Imagen por Resonancia Magnética , Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Fenotipo , Estudios ProspectivosRESUMEN
Reach&grasp requires highly coordinated activation of different brain areas. We investigated whether reach&grasp kinematics is associated to EEG-based networks changes. We enrolled 10 healthy subjects. We analyzed the reach&grasp kinematics of 15 reach&grasp movements performed with each upper limb. Simultaneously, we obtained a 64-channel EEG, synchronized with the reach&grasp movement time points. We elaborated EEG signals with EEGLAB 12 in order to obtain event related synchronization/desynchronization (ERS/ERD) and lagged linear coherence between Brodmann areas. Finally, we evaluated network topology via sLORETA software, measuring network local and global efficiency (clustering and path length) and the overall balance (small-worldness). We observed a widespread ERD in α and ß bands during reach&grasp, especially in the centro-parietal regions of the hemisphere contralateral to the movement. Regarding functional connectivity, we observed an α lagged linear coherence reduction among Brodmann areas contralateral to the arm involved in the reach&grasp movement. Interestingly, left arm movement determined widespread changes of α lagged linear coherence, specifically among right occipital regions, insular cortex and somatosensory cortex, while the right arm movement exerted a restricted contralateral sensory-motor cortex modulation. Finally, no change between rest and movement was found for clustering, path length and small-worldness. Through a synchronized acquisition, we explored the cortical correlates of the reach&grasp movement. Despite EEG perturbations, suggesting that the non-dominant reach&grasp network has a complex architecture probably linked to the necessity of a higher visual control, the pivotal topological measures of network local and global efficiency remained unaffected.
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Electroencefalografía/métodos , Fuerza de la Mano/fisiología , Movimiento/fisiología , Neurociencias/métodos , Adulto , Fenómenos Biomecánicos , Encéfalo/fisiología , Mapeo Encefálico , Femenino , Humanos , Corteza Insular , Masculino , Persona de Mediana Edad , Modelos Neurológicos , Corteza Motora/fisiología , Vías Nerviosas , Lóbulo Parietal , Desempeño Psicomotor/fisiología , Reproducibilidad de los Resultados , Programas Informáticos , Corteza Somatosensorial/fisiologíaRESUMEN
Brain age can be estimated using different Magnetic Resonance Imaging (MRI) modalities including diffusion MRI. Recent studies demonstrated that white matter (WM) tracts that share the same function might experience similar alterations. Therefore, in this work, we sought to investigate such issue focusing on five WM bundles holding that feature that is Association, Brainstem, Commissural, Limbic and Projection fibers, respectively. For each tract group, we estimated brain age for 15,335 healthy participants from United Kingdom Biobank relying on diffusion MRI data derived endophenotypes, Bayesian ridge regression modeling and 10 fold-cross validation. Furthermore, we estimated brain age for an Ensemble model that gathers all the considered WM bundles. Association analysis was subsequently performed between the estimated brain age delta as resulting from the six models, that is for each tract group as well as for the Ensemble model, and 38 daily life style measures, 14 cardiac risk factors and cardiovascular magnetic resonance imaging features and genetic variants. The Ensemble model that used all tracts from all fiber groups (FG) performed better than other models to estimate brain age. Limbic tracts based model reached the highest accuracy with a Mean Absolute Error (MAE) of 5.08, followed by the Commissural ([Formula: see text]), Association ([Formula: see text]), and Projection ([Formula: see text]) ones. The Brainstem tracts based model was the less accurate achieving a MAE of 5.86. Accordingly, our study suggests that the Limbic tracts experience less brain aging or allows for more accurate estimates compared to other tract groups. Moreover, the results suggest that Limbic tract leads to the largest number of significant associations with daily lifestyle factors than the other tract groups. Lastly, two SNPs were significantly (p value [Formula: see text]) associated with brain age delta in the Projection fibers. Those SNPs are mapped to HIST1H1A and SLC17A3 genes.
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Encéfalo/fisiología , Sustancia Blanca/diagnóstico por imagen , Factores de Edad , Envejecimiento , Teorema de Bayes , Encéfalo/patología , Bases de Datos Genéticas , Imagen de Difusión por Resonancia Magnética/métodos , Imagen de Difusión Tensora/métodos , Femenino , Cardiopatías , Histonas/genética , Histonas/metabolismo , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Modelos Biológicos , Factores de Riesgo , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo I/genética , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo I/metabolismo , Reino Unido/epidemiología , Sustancia Blanca/patología , Sustancia Blanca/fisiologíaRESUMEN
Although cognitive impairment (CI) is frequently observed in people with multiple sclerosis (pwMS), its pathogenesis is still controversial. Conflicting results emerged concerning the role of microstructural gray matter (GM) damage especially when involving the deep GM structures. In this study, we aimed at evaluating whether differences in cortical and deep GM structures between apparently cognitively normal (ACN) and CI pwMS (36 subjects in total) are present, using an extensive set of diffusion MRI (dMRI) indices and conventional morphometry measures. The results revealed increased anisotropy and restriction over several deep GM structures in CI compared with ACN pwMS, while no changes in volume were present in the same areas. Conversely, reduced anisotropy/restriction values were detected in cortical regions, mostly the pericalcarine cortex and precuneus, combined with reduced thickness of the superior frontal gyrus and insula. Most of the dMRI metrics but none of the morphometric indices correlated with the Symbol Digit Modality Test. These results suggest that deep GM microstructural damage can be a strong anatomical substrate of CI in pwMS and might allow identifying pwMS at higher risk of developing CI.
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The pathophysiology of essential tremor (ET) is controversial and might be further elucidated by advanced neuroimaging. Focusing on homogenous ET patients diagnosed according to the 2018 consensus criteria, this study aimed to: (1) investigate whether task functional MRI (fMRI) can identify networks of activated and deactivated brain areas, (2) characterize morphometric and functional modulations, relative to healthy controls (HC). Ten ET patients and ten HC underwent fMRI while performing two motor tasks with their upper limb: (1) maintaining a posture (both groups); (2) simulating tremor (HC only). Activations/deactivations were obtained from General Linear Model and compared across groups/tasks. Voxel-based morphometry and linear regressions between clinical and fMRI data were also performed. Few cerebellar clusters of gray matter loss were found in ET. Conversely, widespread fMRI alterations were shown. Tremor in ET (task 1) was associated with extensive deactivations mainly involving the cerebellum, sensory-motor cortex, and basal ganglia compared to both tasks in HC, and was negatively correlated with clinical tremor scales. Homogeneous ET patients demonstrated deactivation patterns during tasks triggering tremor, encompassing a network of cortical and subcortical regions. Our results point towards a marked cerebellar involvement in ET pathophysiology and the presence of an impaired cerebello-thalamo-cortical tremor network.