Machine learning models for diagnosis of essential tremor and dystonic tremor using grey matter morphological networks.

BACKGROUND: Essential tremor (ET) and dystonic tremor (DT) are the two most common tremor disorders, and misdiagnoses are very common due to similar tremor symptoms. In this study, we explore the structural network mechanisms of ET and DT using brain grey matter (GM) morphological networks and combine those with machine learning models. METHODS: 3D-T1 structural images of 75 ET patients, 71 DT patients, and 79 healthy controls (HCs) were acquired. We used voxel-based morphometry to obtain GM images and constructed GM morphological networks based on the Kullback-Leibler divergence-based similarity (KLS) method. We used the GM volumes, morphological relations, and global topological properties of GM-KLS morphological networks as input features. We employed three classifiers to perform the classification tasks. Moreover, we conducted correlation analysis between discriminative features and clinical characteristics. RESULTS: 16 morphological relations features and 1 global topological metric were identified as the discriminative features, and mainly involved the cerebello-thalamo-cortical circuits and the basal ganglia area. The Random Forest (RF) classifier achieved the best classification performance in the three-classification task, achieving a mean accuracy (mACC) of 78.7%, and was subsequently used for binary classification tasks. Specifically, the RF classifier demonstrated strong classification performance in distinguishing ET vs. HCs, ET vs. DT, and DT vs. HCs, with mACCs of 83.0 %, 95.2 %, and 89.3 %, respectively. Correlation analysis demonstrated that four discriminative features were significantly associated with the clinical characteristics. CONCLUSION: This study offers new insights into the structural network mechanisms of ET and DT. It demonstrates the effectiveness of combining GM-KLS morphological networks with machine learning models in distinguishing between ET, DT, and HCs.

Machine learning methods for predicting guide RNA effects in CRISPR epigenome editing experiments.

CRISPR epigenomic editing technologies enable functional interrogation of non-coding elements. However, current computational methods for guide RNA (gRNA) design do not effectively predict the power potential, molecular and cellular impact to optimize for efficient gRNAs, which are crucial for successful applications of these technologies. We present "launch-dCas9" (machine LeArning based UNified CompreHensive framework for CRISPR-dCas9) to predict gRNA impact from multiple perspectives, including cell fitness, wildtype abundance (gauging power potential), and gene expression in single cells. Our launchdCas9, built and evaluated using experiments involving >1 million gRNAs targeted across the human genome, demonstrates relatively high prediction accuracy (AUC up to 0.81) and generalizes across cell lines. Method-prioritized top gRNA(s) are 4.6-fold more likely to exert effects, compared to other gRNAs in the same cis-regulatory region. Furthermore, launchdCas9 identifies the most critical sequence-related features and functional annotations from >40 features considered. Our results establish launch-dCas9 as a promising approach to design gRNAs for CRISPR epigenomic experiments.

Computed tomography-based 3D convolutional neural network deep learning model for predicting micropapillary or solid growth pattern of invasive lung adenocarcinoma.

PURPOSE: To investigate the value of a computed tomography (CT)-based deep learning (DL) model to predict the presence of micropapillary or solid (M/S) growth pattern in invasive lung adenocarcinoma (ILADC). MATERIALS AND METHODS: From June 2019 to October 2022, 617 patients with ILADC who underwent preoperative chest CT scans in our institution were randomly placed into training and internal validation sets in a 4:1 ratio, and 353 patients with ILADC from another institution were included as an external validation set. Then, a self-paced learning (SPL) 3D Net was used to establish two DL models: model 1 was used to predict the M/S growth pattern in ILADC, and model 2 was used to predict that pattern in ≤ 2-cm-diameter ILADC. RESULTS: For model 1, the training cohort's area under the curve (AUC), accuracy, recall, precision, and F1-score were 0.924, 0.845, 0.851, 0.842, and 0.843; the internal validation cohort's were 0.807, 0.744, 0.756, 0.750, and 0.743; and the external validation cohort's were 0.857, 0.805, 0.804, 0.806, and 0.804, respectively. For model 2, the training cohort's AUC, accuracy, recall, precision, and F1-score were 0.946, 0.858, 0.881,0.844, and 0.851; the internal validation cohort's were 0.869, 0.809, 0.786, 0.794, and 0.790; and the external validation cohort's were 0.831, 0.792, 0.789, 0.790, and 0.790, respectively. The SPL 3D Net model performed better than the ResNet34, ResNet50, ResNeXt50, and DenseNet121 models. CONCLUSION: The CT-based DL model performed well as a noninvasive screening tool capable of reliably detecting and distinguishing the subtypes of ILADC, even in small-sized tumors.

Combined brain topological metrics with machine learning to distinguish essential tremor and tremor-dominant Parkinson's disease.

BACKGROUND: Essential tremor (ET) and Parkinson's disease (PD) are the two most prevalent movement disorders, sharing several overlapping tremor clinical features. Although growing evidence pointed out that changes in similar brain network nodes are associated with these two diseases, the brain network topological properties are still not very clear. OBJECTIVE: The combination of graph theory analysis with machine learning (ML) algorithms provides a promising way to reveal the topological pathogenesis in ET and tremor-dominant PD (tPD). METHODS: Topological metrics were extracted from Resting-state functional images of 86 ET patients, 86 tPD patients, and 86 age- and sex-matched healthy controls (HCs). Three steps were conducted to feature dimensionality reduction and four frequently used classifiers were adopted to discriminate ET, tPD, and HCs. RESULTS: A support vector machine classifier achieved the best classification performance of four classifiers for discriminating ET, tPD, and HCs with 89.0% mean accuracy (mACC) and was used for binary classification. Particularly, the binary classification performances among ET vs. tPD, ET vs. HCs, and tPD vs. HCs were with 94.2% mACC, 86.0% mACC, and 86.3% mACC, respectively. The most power discriminative features were mainly located in the default, frontal-parietal, cingulo-opercular, sensorimotor, and cerebellum networks. Correlation analysis results showed that 2 topological features negatively and 1 positively correlated with clinical characteristics. CONCLUSIONS: These results demonstrated that combining topological metrics with ML algorithms could not only achieve high classification accuracy for discrimination ET, tPD, and HCs but also help to reveal the potential brain topological network pathogenesis in ET and tPD.

Unraveling the link: white matter damage, gray matter atrophy and memory impairment in patients with subcortical ischemic vascular disease.

Introduction: Prior MRI studies have shown that patients with subcortical ischemic vascular disease (SIVD) exhibited white matter damage, gray matter atrophy and memory impairment, but the specific characteristics and interrelationships of these abnormal changes have not been fully elucidated. Materials and methods: We collected the MRI data and memory scores from 29 SIVD patients with cognitive impairment (SIVD-CI), 29 SIVD patients with cognitive unimpaired (SIVD-CU) and 32 normal controls (NC). Subsequently, the thicknesses and volumes of the gray matter regions that are closely related to memory function were automatically assessed using FreeSurfer software. Then, the volume, fractional anisotropy (FA), mean diffusivity (MD), amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (ReHo) values of white matter hyperintensity (WMH) region and normal-appearing white matter (NAWM) were obtained using SPM, DPARSF, and FSL software. Finally, the analysis of covariance, spearman correlation and mediation analysis were used to analyze data. Results: Compared with NC group, patients in SIVD-CI and SIVD-CU groups showed significantly abnormal volume, FA, MD, ALFF, and ReHo values of WMH region and NAWM, as well as significantly decreased volume and thickness values of gray matter regions, mainly including thalamus, middle temporal gyrus and hippocampal subfields such as cornu ammonis (CA) 1. These abnormal changes were significantly correlated with decreased visual, auditory and working memory scores. Compared with the SIVD-CU group, the significant reductions of the left CA2/3, right amygdala, right parasubiculum and NAWM volumes and the significant increases of the MD values in the WMH region and NAWM were found in the SIVD-CI group. And the increased MD values were significantly related to working memory scores. Moreover, the decreased CA1 and thalamus volumes mediated the correlations between the abnormal microstructure indicators in WMH region and the decreased memory scores in the SIVD-CI group. Conclusion: Patients with SIVD had structural and functional damages in both WMH and NAWM, along with specific gray matter atrophy, which were closely related to memory impairment, especially CA1 atrophy and thalamic atrophy. More importantly, the volumes of some temporomesial regions and the MD values of WMH regions and NAWM may be potentially helpful neuroimaging indicators for distinguishing between SIVD-CI and SIVD-CU patients.

The differential computed tomography features between small benign and malignant solid solitary pulmonary nodules with different sizes.

Background: Computed tomography (CT) has been widely known to be the first choice for the diagnosis of solid solitary pulmonary nodules (SSPNs). However, the smaller the SSPN is, the less the differential CT signs between benign and malignant SSPNs there are, which brings great challenges to their diagnosis. Therefore, this study aimed to investigate the differential CT features between small (≤15 mm) benign and malignant SSPNs with different sizes. Methods: From May 2018 to November 2021, CT data of 794 patients with small SSPNs (≤15 mm) were retrospectively analyzed. SSPNs were divided into benign and malignant groups, and each group was further classified into three cohorts: cohort I (diameter ≤6 mm), cohort II (6 mm < diameter ≤8 mm), and cohort III (8 mm < diameter ≤15 mm). The differential CT features of benign and malignant SSPNs in three cohorts were identified. Multivariable logistic regression analyses were conducted to identify independent factors of benign SSPNs. Results: In cohort I, polygonal shape and upper-lobe distribution differed significantly between groups (all P<0.05) and multiparametric analysis showed polygonal shape [adjusted odds ratio (OR): 12.165; 95% confidence interval (CI): 1.512-97.872; P=0.019] was the most effective variation for predicting benign SSPNs, with an area under the receiver operating characteristic curve (AUC) of 0.747 (95% CI: 0.640-0.855; P=0.001). In cohort II, polygonal shape, lobulation, pleural retraction, and air bronchogram differed significantly between groups (all P<0.05), and polygonal shape (OR: 8.870; 95% CI: 1.096-71.772; P=0.041) and the absence of pleural retraction (OR: 0.306; 95% CI: 0.106-0.883; P=0.028) were independent predictors of benign SSPNs, with an AUC of 0.778 (95% CI: 0.694-0.863; P<0.001). In cohort III, 12 CT features showed significant differences between groups (all P<0.05) and polygonal shape (OR: 3.953; 95% CI: 1.508-10.361; P=0.005); calcification (OR: 3.710; 95% CI: 1.305-10.551; P=0.014); halo sign (OR: 6.237; 95% CI: 2.838-13.710; P<0.001); satellite lesions (OR: 6.554; 95% CI: 3.225-13.318; P<0.001); and the absence of lobulation (OR: 0.066; 95% CI: 0.026-0.167; P<0.001), air space (OR: 0.405; 95% CI: 0.215-0.764; P=0.005), pleural retraction (OR: 0.297; 95% CI: 0.179-0.493; P<0.001), bronchial truncation (OR: 0.165; 95% CI: 0.090-0.303; P<0.001), and air bronchogram (OR: 0.363; 95% CI: 0.208-0.633; P<0.001) were independent predictors of benign SSPNs, with an AUC of 0.869 (95% CI: 0.840-0.897; P<0.001). Conclusions: CT features vary between SSPNs with different sizes. Clarifying the differential CT features based on different diameter ranges may help to minimize ambiguities and discriminate the benign SSPNs from malignant ones.

Clinical and non-contrast computed tomography characteristics and disease development in patients with benign pulmonary subsolid nodules with a solid component ≤ 5 mm.

OBJECTIVES: To evaluate the clinical and non-contrast computed tomography (CT) features of patients with benign pulmonary subsolid nodules (SSNs) with a solid component ≤ 5 mm and their development trends via follow-up CT. METHODS: We retrospectively collected 436 data from patients who had SSNs with a solid component ≤ 5 mm, including 69 with absorbable benign SSNs (AB-SSNs), 70 with nonabsorbable benign SSNs (NB-SSNs), and 297 with malignant SSNs (M-SSNs). Models 1, 2, and 3 for distinguishing the different types of SSNs were then developed and validated. RESULTS: Patients with AB-SSNs were younger and exhibited respiratory symptoms more frequently than those with M-SSNs. The frequency of nodules detected during follow-up CT was in the following order: AB-SSNs > NB-SSNs > M-SSNs. NB-SSNs were smaller than M-SSNs, and ill-defined margins were more frequent in AB-SSNs than in NB-SSNs and M-SSNs. Benign SSNs exhibited irregular shape, target sign, and lower CT values more frequently compared to M-SSNs, whereas the latter demonstrated bubble lucency more commonly compared to the former. Furthermore, AB-SSNs showed more thickened interlobular septa and satellite lesions than M-SSNs and M-SSNs had more pleural retraction than AB-SSNs (all p < 0.017). The three models had AUCs ranging 0.748-0.920 and 0.790-0.912 in the training and external validation cohorts, respectively. A follow-up CT showed nodule progression in four benign SSNs. CONCLUSIONS: The three SSN types have different clinical and imaging characteristics, with some benign SSNs progressing to resemble malignancy. CRITICAL RELEVANCE STATEMENT: A good understanding of the imaging features and development trends of benign SSNs may help reduce unnecessary follow-up or interventions. This retrospective study explores the CT characteristics of benign SSNs with a solid component ≤ 5 mm by comparing AB-SSNs, NB-SSNs, and M-SSNs and delineates their development trends via follow-up CT. KEY POINTS: 1. Different subsolid nodule types exhibit distinct clinical and imaging features. 2. A miniscule number of benign subsolid nodules can progress to resemble malignancy. 3. Knowing the clinical and imaging features and development trends of benign subsolid nodules can improve management.

Comparison of diffusion tensor imaging (DTI) tissue characterization parameters in white matter tracts of patients with multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD).

OBJECTIVE: To investigate the microstructural properties of T2 lesion and normal-appearing white matter (NAWM) in 20 white matter tracts between multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) and correlations between the tissue damage and clinical variables. METHODS: The white matter (WM) compartment of the brain was segmented for 56 healthy controls (HC), 48 patients with MS, and 38 patients with NMOSD, and for the patients further subdivided into T2 lesion and NAWM. Subsequently, the diffusion tensor imaging (DTI) tissue characterization parameters of fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) were compared for 20 principal white matter tracts. The correlation between tissue damage and clinical variables was also investigated. RESULTS: The higher T2 lesion volumes of 14 fibers were shown in MS compared to NMOSD. MS showed more microstructure damage in 13 fibers of T2 lesion, but similar microstructure in seven fibers compared to NMOSD. MS and NMOSD had microstructure damage of NAWM in 20 fibers compared to WM in HC, with more damage in 20 fibers in MS compared to NMOSD. MS patients showed higher correlation between the microstructure of T2 lesion areas and NAWM. The T2 lesion microstructure damage was correlated with duration and impaired cognition in MS. CONCLUSIONS: Patients with MS and NMOSD show different patterns of microstructural damage in T2 lesion and NAWM areas. The prolonged disease course of MS may aggravate the microstructural damage, and the degree of microstructural damage is further related to cognitive impairment. CLINICAL RELEVANCE STATEMENT: Microstructure differences between T2 lesion areas and normal-appearing white matter help distinguish multiple sclerosis and neuromyelitis optica spectrum disorder. In multiple sclerosis, lesions rather than normal-appearing white matter should be a concern, because the degree of lesion severity correlated both with normal-appearing white matter damage and cognitive impairment. KEY POINTS: • Multiple sclerosis and neuromyelitis optica spectrum disorder have different damage patterns in T2 lesion and normal-appearing white matter areas. • The microstructure damage of normal-appearing white matter is correlated with the microstructure of T2 lesion in multiple sclerosis and neuromyelitis optica spectrum disorder. • The microstructure damage of T2 lesion in multiple sclerosis is correlated with duration and cognitive impairment.

Clinicopathological and computed tomography features associated with recurrence-free survival of patients with small-sized peripheral invasive lung adenocarcinoma after sublobectomy.

Background: Sublobar resection is gradually becoming a standard treatment for small-sized (≤2 cm) peripheral non-small cell lung cancer (NSCLC), with lung adenocarcinoma (LADC) being the most frequent histologic subtype. However, the prognostic predictors for preoperatively determining whether sublobectomy is feasible for patients with early LADC have not yet been well identified. Therefore, this study aimed to investigate the clinicopathological and computed tomography (CT) features associated with the recurrence-free survival (RFS) of patients with small-sized invasive LADC (SILADC) after sublobar resection. Methods: This retrospective cohort study analyzed 107 patients with SILADC who underwent preoperative chest CT scan and sublobar resection from December 2012 to March 2019. The Kaplan-Meier survival was used to analyze the relationship between clinicopathological characteristics, preoperative chest CT findings, and RFS. The Cox proportional hazards regression was used to identify independent prognostic factors of poor RFS. Results: For clinicopathological characteristics, RFS was shorter in patients aged ≥70 years, smokers, and those with micropapillary/solid-predominant adenocarcinomas (all P values <0.05). For preoperative CT features, RFS was shorter in patients with tumor size ≥1.4 cm, solid component size ≥1.1 cm, proportion of solid component ≥72%, solid density, spiculation, vascular convergence sign, peripheral fibrosis, and type II pleural tag (all P values <0.05). Multivariate analysis showed proportion of solid component ≥72% [hazard ratio (HR): 5.920; P=0.006; 95% confidence interval (CI): 1.686-20.794], spiculation (HR: 5.026; P=0.001; 95% CI: 2.008-12.581), and type II pleural tag (HR: 4.638; P=0.002; 95% CI: 1.773-12.136) were independent risk factors for poor prognosis in patients with SILADC after sub-lobectomy. Conclusions: Clinicopathological and CT characteristics are helpful for predicting the RFS of patients with SILADC after sublobar resection and can be used as an auxiliary tool for thoracic surgeons to choose the best surgical mode.

Solitary lung adenocarcinoma: follow-up CT, pathological-molecular characteristics, and surgical prognosis for different morphological classifications.

OBJECTIVE: To investigate the dynamic changes during follow-up computed tomography (CT), histological subtypes, gene mutation status, and surgical prognosis for different morphological presentations of solitary lung adenocarcinomas (SLADC). MATERIALS AND METHODS: This retrospective study compared dynamic tumor changes and volume doubling time (VDT) in 228 patients with SLADC (morphological types I-IV) who had intermittent growth during follow-ups. The correlation between the morphological classification and histological subtypes, gene mutation status, and surgical prognosis was evaluated. RESULTS: Among the 228 patients, 66 (28.9%) were classified as type I, 123 (53.9%) as type II, 16 (7%) as type III, and 23 (10.1%) as type IV. Type I had the shortest VDT (254 days), followed by types IV (381 days) and III (501 days), and then type II (993 days) (p < 0.05 each). Type I had a greater proportion of solid/micropapillary-predominant pattern than type II, and the lepidic-predominant pattern was more common in type II and III than in type I (p < 0.05 each). Furthermore, type II and IV SLADCs were correlated with positive epidermal growth factor receptor mutation (p < 0.05 each). Lastly, the Kaplan-Meier curves showed that the disease-free survival was longest for patients with type II tumors, followed by those with type III and IV tumors, and then those with type I tumors (p < 0.001 each). CONCLUSION: A good understanding of the natural progression and pathological-molecular characteristics of different morphological SLADC types can help make accurate diagnoses, develop individual treatment strategies, and predict patient outcomes. CRITICAL RELEVANCE STATEMENT: A good understanding of the natural progression and pathological-molecular characteristics of different morphological solitary lung adenocarcinoma types can help make accurate diagnoses, develop individual treatment strategies, and predict patient outcomes. KEY POINTS: • Type I-IV solitary lung adenocarcinomas exhibit varying natural progression on serial CT scans. • Morphological classification of solitary lung adenocarcinomas predicts histological subtype, gene status, and surgical prognosis. • This classification of solitary lung adenocarcinomas may help improve diagnostic, therapeutic, and prognosticating abilities.

Charting Aging Trajectories of Knee Cartilage Thickness for Early Osteoarthritis Risk Prediction: An MRI Study from the Osteoarthritis Initiative Cohort.

Knee osteoarthritis (OA), a prevalent joint disease in the U.S., poses challenges in terms of predicting of its early progression. Although high-resolution knee magnetic resonance imaging (MRI) facilitates more precise OA diagnosis, the heterogeneous and multifactorial aspects of OA pathology remain significant obstacles for prognosis. MRI-based scoring systems, while standardizing OA assessment, are both time-consuming and labor-intensive. Current AI technologies facilitate knee OA risk scoring and progression prediction, but these often focus on the symptomatic phase of OA, bypassing initial-stage OA prediction. Moreover, their reliance on complex algorithms can hinder clinical interpretation. To this end, we make this effort to construct a computationally efficient, easily-interpretable, and state-of-the-art approach aiding in the radiographic OA (rOA) auto-classification and prediction of the incidence and progression, by contrasting an individual's cartilage thickness with a similar demographic in the rOA-free cohort. To better visualize, we have developed the toolset for both prediction and local visualization. A movie demonstrating different subtypes of dynamic changes in local centile scores during rOA progression is available at https://tli3.github.io/KneeOA/. Specifically, we constructed age-BMI-dependent reference charts for knee OA cartilage thickness, based on MRI scans from 957 radiographic OA (rOA)-free individuals from the Osteoarthritis Initiative cohort. Then we extracted local and global centiles by contrasting an individual's cartilage thickness to the rOA-free cohort with a similar age and BMI. Using traditional boosting approaches with our centile-based features, we obtain rOA classification of KLG ≤ 1 versus KLG = 2 (AUC = 0.95, F1 = 0.89), KLG ≤ 1 versus KLG ≥ 2 (AUC = 0.90, F1 = 0.82) and prediction of KLG2 progression (AUC = 0.98, F1 = 0.94), rOA incidence (KLG increasing from < 2 to ≥ 2; AUC = 0.81, F1 = 0.69) and rOA initial transition (KLG from 0 to 1; AUC = 0.64, F1 = 0.65) within a future 48-month period. Such performance in classifying KLG ≥ 2 matches that of deep learning methods in recent literature. Furthermore, its clinical interpretation suggests that cartilage changes, such as thickening in lateral femoral and anterior femoral regions and thinning in lateral tibial regions, may serve as indicators for prediction of rOA incidence and early progression. Meanwhile, cartilage thickening in the posterior medial and posterior lateral femoral regions, coupled with a reduction in the central medial femoral region, may signify initial phases of rOA transition.

The pivotal role of the X-chromosome in the genetic architecture of the human brain.

Genes on the X-chromosome are extensively expressed in the human brain, resulting in substantial influences on brain development, intellectual disability, and other brain-related disorders. To comprehensively investigate the X-chromosome's impact on the cerebral cortex, white matter tract microstructures, and intrinsic and extrinsic brain functions, we examined 2,822 complex brain imaging traits obtained from n=34,000 subjects in the UK Biobank. We unveiled potential autosome-X-chromosome interaction, while proposing an atlas of dosage compensation (DC) for each set of traits. We observed a pronounced X-chromosome impact on the corticospinal tract and the functional amplitude and connectivity of visual networks. In association studies, we identified 50 genome-wide significant trait-locus pairs enriched in Xq28, 22 of which replicated in independent datasets (n=4,900). Notably, 13 newly identified pairs were in the X-chromosome's non-pseudo-autosomal regions (NPR). The volume of the right ventral diencephalon shared genetic architecture with schizophrenia and educational attainment in a locus indexed by rs2361468 (located ~3kb upstream of PJA1, a conserved and ubiquitously expressed gene implicated in multiple psychiatric disorders). No significant associations were identified in the pseudo-autosomal regions (PAR) or the Y-chromosome. Finally, we explored sex-specific associations on the X-chromosome and compared differing genetic effects between sexes. We found much more associations can be identified in males (33 versus 9) given a similar sample size. In conclusion, our research provides invaluable insights into the X-chromosome's role in the human brain, contributing to the observed sex differences in brain structure and function.

Using histogram analysis of the intrinsic brain activity mapping to identify essential tremor.

Background: Essential tremor (ET) is one of the most common movement disorders. Histogram analysis based on brain intrinsic activity imaging is a promising way to identify ET patients from healthy controls (HCs) and further explore the spontaneous brain activity change mechanisms and build the potential diagnostic biomarker in ET patients. Methods: The histogram features based on the Resting-state functional magnetic resonance imaging (Rs-fMRI) data were extracted from 133 ET patients and 135 well-matched HCs as the input features. Then, a two-sample t-test, the mutual information, and the least absolute shrinkage and selection operator methods were applied to reduce the feature dimensionality. Support vector machine (SVM), logistic regression (LR), random forest (RF), and k-nearest neighbor (KNN) were used to differentiate ET and HCs, and classification performance of the established models was evaluated by the mean area under the curve (AUC). Moreover, correlation analysis was carried out between the selected histogram features and clinical tremor characteristics. Results: Each classifier achieved a good classification performance in training and testing sets. The mean accuracy and area under the curve (AUC) of SVM, LR, RF, and KNN in the testing set were 92.62%, 0.948; 92.01%, 0.942; 93.88%, 0.941; and 92.27%, 0.939, respectively. The most power-discriminative features were mainly located in the cerebello-thalamo-motor and non-motor cortical pathways. Correlation analysis showed that there were two histogram features negatively and one positively correlated with tremor severity. Conclusion: Our findings demonstrated that the histogram analysis of the amplitude of low-frequency fluctuation (ALFF) images with multiple machine learning algorithms could identify ET patients from HCs and help to understand the spontaneous brain activity pathogenesis mechanisms in ET patients.

Heart-brain connections: Phenotypic and genetic insights from magnetic resonance images.

Cardiovascular health interacts with cognitive and mental health in complex ways, yet little is known about the phenotypic and genetic links of heart-brain systems. We quantified heart-brain connections using multiorgan magnetic resonance imaging (MRI) data from more than 40,000 subjects. Heart MRI traits displayed numerous association patterns with brain gray matter morphometry, white matter microstructure, and functional networks. We identified 80 associated genomic loci (P < 6.09 × 10-10) for heart MRI traits, which shared genetic influences with cardiovascular and brain diseases. Genetic correlations were observed between heart MRI traits and brain-related traits and disorders. Mendelian randomization suggests that heart conditions may causally contribute to brain disorders. Our results advance a multiorgan perspective on human health by revealing heart-brain connections and shared genetic influences.

Comparison of Three Algorithms for Predicting Infarct Volume in Patients with Acute Ischemic Stroke by CT Perfusion Software: Bayesian, CSVD, and OSVD.

This study aimed to compare the performance of the Bayesian probabilistic method, circular Singular Value Decomposition (cSVD), and oscillation index Singular Value Decomposition (oSVD) algorithms in Olea Sphere for predicting infarct volume in patients with acute ischemic stroke (AIS). Eighty-seven patients suffering from AIS with large vessel occlusion were divided into improvement and progression groups. The improvement group included patients with successful recanalization (TICI 2b-3) after thrombectomy or whose clinical symptoms improved after thrombolysis. The progression group consisted of patients whose clinical symptoms did not improve or even got worse. The infarct core volume from the Olea Sphere software was used as the predicted infarct volume (PIV) in the improvement group, whereas the hypoperfusion volume was used as the PIV in the progression group. We defined predicted difference (PD) as PIV minus final infarct volume (FIV) measured at follow-up imaging. Differences among the three algorithms were assessed by the Friedman test. Spearman correlation analysis was used to verify the correlation between PIV and FIV. In addition, we performed a subgroup analysis of the progression group based on collateral circulation status. The median [interquartile range (IQR)] of the PD and Spearman correlation coefficients (SCCs) between PIV and FIV for the improvement group (n = 22) were: Bayesian = [6.99 (-14.72, 18.99), 0.500]; oSVD = [-12.74 (-41.06, -3.46), 0.423]; cSVD = [-15.38 (-38.92, -4.68), 0.586]. For the progression group (n = 65), the median (IQR) of PD and SCCs were: Bayesian = [1.00 (-34.07, 49.37), 0.748]; oSVD = [-0.17 (-53.42, 29.73), 0.712]; cSVD = [66.55 (7.94, 106.32), 0.674]. The Bayesian algorithm in the Olea Sphere software predicted infarct volumes with better accuracy and stability than the other two algorithms in both the progression and improvement groups.

Comparison of two computed tomography perfusion post-processing software to assess infarct volume in patients with acute ischemic stroke.

Objectives: We used two automated software commonly employed in clinical practice-Olea Sphere (Olea) and Shukun-PerfusionGo (PerfusionGo)-to compare the diagnostic utility and volumetric agreement of computed tomography perfusion (CTP)-predicted final infarct volume (FIV) with true FIV in patients with anterior-circulation acute ischemic stroke (AIS). Methods: In all, 122 patients with anterior-circulation AIS who met the inclusion and exclusion criteria were retrospectively enrolled and divided into two groups: intervention group (n = 52) and conservative group (n = 70), according to recanalization of blood vessels and clinical outcome (NIHSS) after different treatments. Patients in both groups underwent one-stop 4D-CT angiography (CTA)/CTP, and the raw CTP data were processed on a workstation using Olea and PerfusionGo post-processing software, to calculate and obtain the ischemic core (IC) and hypoperfusion (IC plus penumbra) volumes, hypoperfusion in the conservative group and IC in the intervention group were used to define the predicted FIV. The ITK-SNAP software was used to manually outline and measure true FIV on the follow-up non-enhanced CT or MRI-DWI images. Intraclass correlation coefficients (ICC), Bland-Altman, and Kappa analysis were used to compare the differences in IC and penumbra volumes calculated by the Olea and PerfusionGo software to investigate the relationship between their predicted FIV and true FIV. Results: The IC and penumbra difference between Olea and PerfusionGo within the same group (p < 0.001) was statistically significant. Olea obtained larger IC and smaller penumbra than PerfusionGo. Both software partially overestimated the infarct volume, but Olea significantly overestimated it by a larger percentage. ICC analysis showed that Olea performed better than PerfusionGo (intervention-Olea: ICC 0.633, 95%CI 0.439-0.771; intervention-PerfusionGo: ICC 0.526, 95%CI 0.299-0.696; conservative-Olea: ICC 0.623, 95%CI 0.457-0.747; conservative-PerfusionGo: ICC 0.507, 95%CI 0.312-0.662). Olea and PerfusionGo had the same capacity in accurately diagnosing and classifying patients with infarct volume <70 ml. Conclusion: Both software had differences in the evaluation of the IC and penumbra. Olea's predicted FIV was more closely correlated with the true FIV than PerfusionGo's prediction. Accurate assessment of infarction on CTP post-processing software remains challenging. Our results may have important practice implications for the clinical use of perfusion post-processing software.

Cell composition inference and identification of layer-specific spatial transcriptional profiles with POLARIS.

Spatial transcriptomics (ST) technology, providing spatially resolved transcriptional profiles, facilitates advanced understanding of key biological processes related to health and disease. Sequencing-based ST technologies provide whole-transcriptome profiles but are limited by the non-single cell-level resolution. Lack of knowledge in the number of cells or cell type composition at each spot can lead to invalid downstream analysis, which is a critical issue recognized in ST data analysis. Methods developed, however, tend to underuse histological images, which conceptually provide important and complementary information including anatomical structure and distribution of cells. To fill in the gaps, we present POLARIS, a versatile ST analysis method that can perform cell type deconvolution, identify anatomical or functional layer-wise differentially expressed (LDE) genes, and enable cell composition inference from histology images. Applied to four tissues, POLARIS demonstrates high deconvolution accuracy, accurately predicts cell composition solely from images, and identifies LDE genes that are biologically relevant and meaningful.

Development and validation of a CT algorithm for the identification of nonperforated duodenal bulb ulcer.

PURPOSE: To assess the value of multiplanar computed tomography (CT) in the diagnosis of nonperforated duodenal bulb ulcer (NPDBU). METHOD: We retrospectively analyzed data from 135 patients with NPDBU (ulcer group) and 150 patients with a normal duodenal bulb (control group) who underwent contrast-enhanced abdominal CT and were diagnosed via upper endoscopy from January 2018 to February 2022. The clinical and CT features were compared between the two groups. Independent prognostic factors for diagnosing NPDBU were determined using binary logistic regression analysis. An external validation cohort to determine the model's efficiency comprised 80 patients from another center. RESULTS: Gastrointestinal bleeding was more frequent in patients with NPDBU than in those without (p < 0.001). No significant differences in age and sex were observed between the groups (all p > 0.05). The duodenal bulbar wall was significantly thicker in the ulcer group than in the control group, as determined using CT (p < 0.001). Irregular mucosal surface, layered enhancement, and blurred fat space around the duodenal bulb were more common in the ulcer group than in the control group (all p < 0.001). Binary logistic regression analysis revealed that gastrointestinal bleeding, wall thickness of ≥ 4.85 mm, irregular mucosal surface, and blurred peripheral fat space were the most significant variations associated with NPDBU, with an area under the curve (AUC) of 0.974. The external validation cohort had an AUC of 0.916. CONCLUSIONS: Careful multiplanar CT interpretation suggests the underlying presence of NPDBU and allows timely endoscopic verification and appropriate treatment.

The Effect of Magnetic Resonance Imaging Based Radiomics Models in Discriminating stage I-II and III-IVa Nasopharyngeal Carcinoma.

BACKGROUND: Nasopharyngeal carcinoma (NPC) is a common tumor in China. Accurate stages of NPC are crucial for treatment. We therefore aim to develop radiomics models for discriminating early-stage (I-II) and advanced-stage (III-IVa) NPC based on MR images. METHODS: 329 NPC patients were enrolled and randomly divided into a training cohort (n = 229) and a validation cohort (n = 100). Features were extracted based on axial contrast-enhanced T1-weighted images (CE-T1WI), T1WI, and T2-weighted images (T2WI). Least absolute shrinkage and selection operator (LASSO) was used to build radiomics signatures. Seven radiomics models were constructed with logistic regression. The AUC value was used to assess classification performance. The DeLong test was used to compare the AUCs of different radiomics models and visual assessment. RESULTS: Models A, B, C, D, E, F, and G were constructed with 13, 9, 7, 9, 10, 7, and 6 features, respectively. All radiomics models showed better classification performance than that of visual assessment. Model A (CE-T1WI + T1WI + T2WI) showed the best classification performance (AUC: 0.847) in the training cohort. CE-T1WI showed the greatest significance for staging NPC. CONCLUSION: Radiomics models can effectively distinguish early-stage from advanced-stage NPC patients, and Model A (CE-T1WI + T1WI + T2WI) showed the best classification performance.

Significant Slowed Cortical Venous Blood Flow in Patients with Acute Ischemic Stroke with Large Vessel Occlusion Suggests Poor Collateral Circulation and Prognosis.

RATIONALE AND OBJECTIVES: To investigate the change of cortical venous flow in acute ischemic stroke patients with large vessel occlusion (LVO-AIS) and its clinical value. MATERIALS AND METHODS: Baseline whole-brain 4D-CTA/CTP and clinical data of LVO-AIS and a control group were collected from June 2020 to October 2021. Venous inflow time (VIT), venous peak time (VPT), and venous outflow time (VOT) were analyzed on both sides of patients and normal controls. The VIT/VPT/VOT were statistically described and compared between the patient group and normal controls, then, in patients with different collateral circulation and prognoses. Next, the correlation between cortical venous drainage time and collateral circulation grading was analyzed. Finally, logistic regression analysis was used to explore the relationship between the three venous times and prognosis, and receiver operating characteristic (ROC) curves were plotted to assess the value of delayed cortical venous imaging in predicting prognosis. RESULTS: 149 LVO-AIS and 73 normal controls were collected. VIT, VPT, and VOT were significantly delayed on the affected side in the patient group compared with the healthy side (p<0.05) and the controls (p<0.05); VIT and VPT were also significantly delayed on the healthy side of patients compared with the controls (p<0.05). Delayed VIT and VPT on the affected side in the patient group were more significant in patients with poor collateral circulation (p<0.05), and VIT and VPT on the affected side in the patient group were negatively correlated with arterial collateral scores. VIT and VPT were significantly delayed in both sides of patients in the poor prognosis group compared with the good prognosis group (p<0.05). logistic regression showed that patients' affected VPT, arterial collateral scores, and NIHSS were independent predictors of poor prognosis, with an accuracy of 79.6% in predicting poor prognosis. The affected VPT and NIHSS were independent predictors of poor prognosis for patients presenting within 24 hours, with an accuracy of 79.6% in predicting poor prognosis. CONCLUSION: Cortical venous flow was significantly slowed in both sides of LVO-AIS patients. delayed ipsilateral VPT in LVO-AIS patients can be used as an imaging indicator to determine poor collateral circulation and predict poor prognosis.