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Introduction: Differentiating Progressive Supranuclear Palsy (PSP) from Parkinson's Disease (PD) may be clinically challenging. In this study, we explored the performance of machine learning models based on MR imaging and blood molecular biomarkers in distinguishing between these two neurodegenerative diseases., Methods: Twenty-eight PSP patients, 46 PD patients and 60 control subjects (HC) were consecutively enrolled in the study. Serum concentration of neurofilament light chain protein (Nf-L) was assessed by single molecule array (SIMOA), while an automatic segmentation algorithm was employed for T1-weighted measurements of third ventricle width/intracranial diameter ratio (3 rd V/ID). Machine learning (ML) models with Logistic Regression (LR), Random Forest (RF), and XGBoost algorithms based on 3 rd V/ID and serum Nf-L levels were tested in distinguishing among PSP, PD and HC., Results: PSP patients showed higher serum Nf-L levels and larger 3 rd V/ID ratio in comparison with both PD and HC groups (p < 0.005). All ML algorithms (LR, RF and XGBoost) showed that the combination of MRI and blood biomarkers had excellent classification performances in differentiating PSP from PD (AUC ≥0.92), outperforming each biomarker used alone (AUC: 0.85-0.90). Among the different algorithms, XGBoost was slightly more powerful than LR and RF in distinguishing PSP from PD patients, reaching AUC of 0.94 ± 0.04., Conclusion: Our findings highlight the usefulness of combining blood and simple linear MRI biomarkers to accurately distinguish between PSP and PD patients. This multimodal approach may play a pivotal role in patient management and clinical decision-making, paving the way for more effective and timely interventions in these neurodegenerative diseases., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Introduction: Distinguishing tremor-dominant Parkinson's disease (tPD) from essential tremor with rest tremor (rET) can be challenging and often requires dopamine imaging. This study aimed to differentiate between these two diseases through a machine learning (ML) approach based on rest tremor (RT) electrophysiological features and structural MRI data. Methods: We enrolled 72 patients including 40 tPD patients and 32 rET patients, and 45 control subjects (HC). RT electrophysiological features (frequency, amplitude, and phase) were calculated using surface electromyography (sEMG). Several MRI morphometric variables (cortical thickness, surface area, cortical/subcortical volumes, roughness, and mean curvature) were extracted using Freesurfer. ML models based on a tree-based classification algorithm termed XGBoost using MRI and/or electrophysiological data were tested in distinguishing tPD from rET patients. Results: Both structural MRI and sEMG data showed acceptable performance in distinguishing the two patient groups. Models based on electrophysiological data performed slightly better than those based onMRI data only (mean AUC: 0.92 and 0.87, respectively; p = 0.0071). The top-performing model used a combination of sEMG features (amplitude and phase) and MRI data (cortical volumes, surface area, andmean curvature), reaching AUC: 0.97 ± 0.03 and outperformingmodels using separately either MRI (p = 0.0001) or EMG data (p = 0.0231). In the best model, the most important feature was the RT phase. Conclusion: Machine learning models combining electrophysiological and MRI data showed great potential in distinguishing between tPD and rET patients and may serve as biomarkers to support clinicians in the differential diagnosis of rest tremor syndromes in the absence of expensive and invasive diagnostic procedures such as dopamine imaging. [ABSTRACT FROM AUTHOR]

Objective: To investigate the performance of structural MRI cortical and subcortical morphometric data combined with blink-reflex recovery cycle (BRrc) values using machine learning (ML) models in distinguishing between essential tremor (ET) with resting tremor (rET) and classic ET. Methods: We enrolled 47 ET, 43 rET patients and 45 healthy controls (HC). All participants underwent brain 3 T-MRI and BRrc examination at different interstimulus intervals (ISIs, 100--300 msec). MRI data (cortical thickness, volumes, surface area, roughness, mean curvature and subcortical volumes) were extracted using Freesurfer on T1-weighted images. We employed two decision tree-based ML classification algorithms (eXtreme Gradient Boosting [XGBoost] and Random Forest) combining MRI data and BRrc values to differentiate between rET and ET patients. Results: ML models based exclusively on MRI features reached acceptable performance (AUC: 0.85--0.86) in differentiating rET from ET patients and from HC. Similar performances were obtained by ML models based on BRrc data (AUC: 0.81--0.82 in rET vs. ET and AUC: 0.88--0.89 in rET vs. HC). ML models combining imaging data (cortical thickness, surface, roughness, and mean curvature) together with BRrc values showed the highest classification performance in distinguishing between rET and ET patients, reaching AUC of 0.94 ± 0.05. The improvement in classification performances when BRrc data were added to imaging features was confirmed by both ML algorithms. Conclusion: This study highlights the usefulness of adding a simple electrophysiological assessment such as BRrc to MRI cortical morphometric features for accurately distinguishing rET from ET patients, paving the way for a better classification of these ET syndromes. [ABSTRACT FROM AUTHOR]

Alzheimer's disease (AD) exhibits sex-linked variations, with women having a higher prevalence, and little is known about the sexual dimorphism in progressing from Mild Cognitive Impairment (MCI) to AD. The main aim of our study was to shed light on the sex-specific conversion-to-AD risk factors using Random Survival Forests (RSF), a Machine Learning survival approach, and Shapley Additive Explanations (SHAP) on dementia biomarkers in stable (sMCI) and progressive (pMCI) patients. With this purpose, we built two separate models for male (M-RSF) and female (F-RSF) cohorts to assess whether global explanations differ between the sexes. Similarly, SHAP local explanations were obtained to investigate changes across sexes in feature contributions to individual risk predictions. The M-RSF achieved higher performance on the test set (0.87) than the F-RSF (0.79), and global explanations of male and female models had limited similarity (<71.1%). Common influential variables across the sexes included brain glucose metabolism and CSF biomarkers. Conversely, the M-RSF had a notable contribution from hippocampus, which had a lower impact on the F-RSF, while verbal memory and executive function were key contributors only in F-RSF. Our findings confirmed that females had a higher risk of progressing to dementia; moreover, we highlighted distinct sex-driven patterns of variable importance, uncovering different feature contribution risks across sexes that decrease/increase the conversion-to-AD risk. [ABSTRACT FROM AUTHOR]

Progressive supranuclear palsy (PSP) is a rare, rapidly progressive neurodegenerative disease. Richardson's syndrome (PSP‐RS) and predominant parkinsonism (PSP‐P) are characterized by wide range of cognitive and behavioural disturbances, but these variants show similar cognitive pattern of alterations, leading difficult differential diagnosis. For this reason, we explored with an Artificial Intelligence approach, whether cognitive impairment could differentiate the phenotypes. Forty Parkinson's disease (PD) patients, 25 PSP‐P, 40 PSP‐RS, and 34 controls were enrolled following the consensus criteria diagnosis. Participants were evaluated with neuropsychological battery for cognitive domains. Random Forest models were used for exploring the discriminant power of the cognitive tests in distinguishing among the four groups. The classifiers for distinguishing diseases from controls reached high accuracies (86% for PD, 95% for PSP‐P, 99% for PSP‐RS). Regarding the differential diagnosis, PD was discriminated from PSP‐P with 91% (important variables: HAMA, MMSE, JLO, RAVLT_I, BDI‐II) and from PSP‐RS with 92% (important variables: COWAT, JLO, FAB). PSP‐P was distinguished from PSP‐RS with 84% (important variables: JLO, WCFST, RAVLT_I, Digit span_F). This study revealed that PSP‐P, PSP‐RS and PD had peculiar cognitive deficits compared with healthy subjects, from which they were discriminated with optimal accuracies. Moreover, high accuracies were reached also in differential diagnosis. Most importantly, Machine Learning resulted to be useful to the clinical neuropsychologist in choosing the most appropriate neuropsychological tests for the cognitive evaluation of PSP patients. [ABSTRACT FROM AUTHOR]

In the last decade, Machine Learning (ML) has indisputably had a pervasive application in healthcare and biomedical applications [[1]]. The present Special Issue collected six works that focus on the application of ML algorithms to healthcare and clinical challenges, all demonstrating one or more of the three forms that the concept of I learning i can take. The excellent performance of ML algorithms and the new scientific knowledge they have provided had supported, improved, and speeded up disease diagnosis, precision medicine, biomarker discovery, and clinical decision-making in general. [Extracted from the article]

Introduction: Progressive supranuclear palsy (PSP) and idiopathic normal pressure hydrocephalus (iNPH) share several clinical and radiological features, making the differential diagnosis challenging. In this study, we aimed to differentiate between these two diseases using a machine learning approach based on cortical thickness and volumetric data.Methods: Twenty-three iNPH patients, 50 PSP patients and 55 control subjects were enrolled. All participants underwent a brain 3T-MRI, and cortical thickness and volumes were extracted using Freesurfer 6 on T1-weighted images and compared among groups. Finally, the performance of a machine learning approach with random forest using the extracted cortical features was investigated to differentiate between iNPH and PSP patients.Results: iNPH patients showed cortical thinning and volume loss in the frontal lobe, temporal lobe and cingulate cortex, and thickening in the superior parietal gyrus in comparison with controls and PSP patients. PSP patients only showed mild thickness and volume reduction in the frontal lobe, compared to control subjects. Random Forest algorithm distinguished iNPH patients from controls with AUC of 0.96 and from PSP patients with AUC of 0.95, while a lower performance (AUC 0.76) was reached in distinguishing PSP from controls.Conclusion: This study demonstrated a more severe and widespread cortical involvement in iNPH than in PSP, possibly due to the marked lateral ventricular enlargement which characterizes iNPH. A machine learning model using thickness and volumetric data led to accurate differentiation between iNPH and PSP patients, which may help clinicians in the differential diagnosis and in the selection of patients for shunt procedures. [ABSTRACT FROM AUTHOR]

The ability to predict the individual outcomes of clinical trials could support the development of tools for precision medicine and improve the efficiency of clinical-stage drug development. However, there are no published attempts to predict individual outcomes of clinical trials for cancer. We used machine learning (ML) to predict individual responses to a two-year course of bicalutamide, a standard treatment for prostate cancer, based on data from three Phase III clinical trials (n = 3653). We developed models that used a merged dataset from all three studies. The best performing models using merged data from all three studies had an accuracy of 76%. The performance of these models was confirmed by further modeling using a merged dataset from two of the three studies, and a separate study for testing. Together, our results indicate the feasibility of ML-based tools for predicting cancer treatment outcomes, with implications for precision oncology and improving the efficiency of clinical-stage drug development. [ABSTRACT FROM AUTHOR]

• Subject head motion represents the first noise source in resting-state fMRI. • Along axes (X , Y , Z) , we extracted translations (x,y,z) and rotations (phi,theta,psi). • Normal aging produces significant increase in head motion and signal distortion. • In elderly, most important altered parameters were psi, z and y. • A better control of these signals is fundamental to avoid possible unreliable result. Resting-state-fMRI is a technique used to explore the functional brain architecture in term of brain networks and their interactions. However, the robustness of Resting-state-fMRI analysis is negatively affected by physiological noise caused by subject head motion. The aim of our study was to provide new knowledge about the effect of normal aging on the head motion signals. For the first time, we proposed a method for evaluating the most sensitive head motion parameters linked to subjects'aging. We enrolled 14-young(9females; mean-age = 28 ± 4.07) and 14-elderly(9females; mean-age = 66 ± 5.19) subjects. Along three axes(X,Y,Z), we extracted six motions parameters which reflected the head's movements to characterize translations(x,y,z) and rotations(angles phi,theta,psi). We performed:1)univariate analysis for comparing the groups and correlation to investigate the relationship between age and movement parameters; 2)Support-Vector-Machine, using bootstrap and calculating the feature importance. Statistical analyses showed significant association between the aging and some motion's parameters(rotation psi; translations y and z). These results were also confirmed by multivariate analysis with Support-Vector-Machine that presented an AUC of 90 %. The proposed method shows that normal aging produces significant increase in head motion parameters, highlighting the critical effect of motion on resting data analyses in particular considering psi, y and z movements. To our knowledge and at the present, this represents the first study investigating the accurate characterization of motion parameters in aging. Our results have a high impact to improve healthy control recruitment and appropriately decreasing the risk of signal distortion, according to the age of enrolled subjects. [ABSTRACT FROM AUTHOR]

Background The application of artificial intelligence to extract predictors of Gambling disorder (GD) is a new field of study. A plethora of studies have suggested that maladaptive personality dispositions may serve as risk factors for GD. New method Here, we used Classification and Regression Trees algorithm to identify multivariate predictive patterns of personality profiles that could identify GD patients from healthy controls at an individual level. Forty psychiatric patients, recruited from specialized gambling clinics, without any additional comorbidity and 160 matched healthy controls completed the Five-Factor model of personality as measured by the NEO-PI-R, which were used to build the classification model. Results Classification algorithm was able to discriminate individuals with GD from controls with an AUC of 77.3% (95% CI 0.65–0.88, p < 0.0001). A multidimensional construct of traits including sub-facets of openness, neuroticism and conscientiousness was employed by algorithm for classification detection. Comparison with existing method(s) To the best of our knowledge, this is the first study that combines behavioral data with machine learning approach useful to extract multidimensional features characterizing GD realm. Conclusion Our study provides a proof-of-concept demonstrating the potential of the proposed approach for GD diagnosis. The multivariate combination of personality facets characterizing individuals with GD can potentially be used to assess subjects’ vulnerability in clinical setting. [ABSTRACT FROM AUTHOR]