Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD.

Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) share many clinical, pathological, and genetic features, but a detailed understanding of their associated transcriptional alterations across vulnerable cortical cell types is lacking. Here, we report a high-resolution, comparative single-cell molecular atlas of the human primary motor and dorsolateral prefrontal cortices and their transcriptional alterations in sporadic and familial ALS and FTLD. By integrating transcriptional and genetic information, we identify known and previously unidentified vulnerable populations in cortical layer 5 and show that ALS- and FTLD-implicated motor and spindle neurons possess a virtually indistinguishable molecular identity. We implicate potential disease mechanisms affecting these cell types as well as non-neuronal drivers of pathogenesis. Finally, we show that neuron loss in cortical layer 5 tracks more closely with transcriptional identity rather than cellular morphology and extends beyond previously reported vulnerable cell types.

Educational Overview of the Concept and Application of Computer Vision in Arthroplasty.

Image data has grown exponentially as systems have increased their ability to collect and store it. Unfortunately, there are limits to human resources both in time and knowledge to fully interpret and manage that data. Computer Vision (CV) has grown in popularity as a discipline for better understanding visual data. Computer Vision has become a powerful tool for imaging analytics in orthopedic surgery, allowing computers to evaluate large volumes of image data with greater nuance than previously possible. Nevertheless, even with the growing number of uses in medicine, literature on the fundamentals of CV and its implementation is mainly oriented toward computer scientists rather than clinicians, rendering CV unapproachable for most orthopedic surgeons as a tool for clinical practice and research. The purpose of this article is to summarize and review the fundamental concepts of CV application for the orthopedic surgeon and musculoskeletal researcher.

An Overview of Machine Learning in Orthopedic Surgery: An Educational Paper.

The growth of artificial intelligence combined with the collection and storage of large amounts of data in the electronic medical record collection has created an opportunity for orthopedic research and translation into the clinical environment. Machine learning (ML) is a type of artificial intelligence tool well suited for processing the large amount of available data. Specific areas of ML frequently used by orthopedic surgeons performing total joint arthroplasty include tabular data analysis (spreadsheets), medical imaging processing, and natural language processing (extracting concepts from text). Previous studies have discussed models able to identify fractures in radiographs, identify implant type in radiographs, and determine the stage of osteoarthritis based on walking analysis. Despite the growing popularity of ML, there are limitations including its reliance on "good" data, potential for overfitting, long life cycle for creation, and ability to only perform one narrow task. This educational article will further discuss a general overview of ML, discussing these challenges and including examples of successfully published models.

Application of Natural Language Processing in Total Joint Arthroplasty: Opportunities and Challenges.

Total joint arthroplasty is becoming one of the most common surgeries within the United States, creating an abundance of analyzable data to improve patient experience and outcomes. Unfortunately, a large majority of this data is concealed in electronic health records only accessible by manual extraction, which takes extensive time and resources. Natural language processing (NLP), a field within artificial intelligence, may offer a viable alternative to manual extraction. Using NLP, a researcher can analyze written and spoken data and extract data in an organized manner suitable for future research and clinical use. This article will first discuss common subtasks involved in an NLP pipeline, including data preparation, modeling, analysis, and external validation, followed by examples of NLP projects. Challenges and limitations of NLP will be discussed, closing with future directions of NLP projects, including large language models.

Prognostic Factors and Epidemiology of Amyotrophic Lateral Sclerosis in Southeastern United States.

Objective: To assess the performance of known survival predictors and evaluate their stratification capability in patients with amyotrophic lateral sclerosis (ALS). Patients and Methods: We analyzed demographic and clinical variables collected at the Mayo Clinic, Florida ALS center during the first clinical visit of 1442 (100%) patients with ALS. Results: Our cohort had a median (interquartile range [IQR]) age at diagnosis of 64.8 (57-72) years; 1350 (92%) were non-Hispanic White; and 771 (53.5%) were male. The median (IQR) diagnostic delay was 10.1 (6-18) months, body mass index was 25.4 (23-49), and forced vital capacity was 72% (52%-87%). Approximately 12% of patients tested carried a pathologic C9orf72 hexanucleotide repeat expansion. Median (IQR) ALS functional rating scale-revised score was 35 (29-40) and ALS cognitive behavioral screen score was 15 (12-17). The median (IQR) survival after diagnosis was 17.2 (9-31) months, and survival from symptom onset was 30 (20-48) months. We found that older age decreased forced vital capacity, and fast-progressing ALS functional rating scale-revised scores significantly (P<.0001) influence survival curves and associated hazard risk. Conclusion: Although results obtained from our cohort are consistent with other reports (eg, men with spinal onset experience a longer survival than women with bulbar onset), they remind us of the complexity of the disease's natural history and the limited prognostic power of the most common clinical predictors.

Analyzing classification and feature selection strategies for diabetes prediction across diverse diabetes datasets.

Introduction: In the evolving landscape of healthcare and medicine, the merging of extensive medical datasets with the powerful capabilities of machine learning (ML) models presents a significant opportunity for transforming diagnostics, treatments, and patient care. Methods: This research paper delves into the realm of data-driven healthcare, placing a special focus on identifying the most effective ML models for diabetes prediction and uncovering the critical features that aid in this prediction. The prediction performance is analyzed using a variety of ML models, such as Random Forest (RF), XG Boost (XGB), Linear Regression (LR), Gradient Boosting (GB), and Support VectorMachine (SVM), across numerousmedical datasets. The study of feature importance is conducted using methods including Filter-based, Wrapper-based techniques, and Explainable Artificial Intelligence (Explainable AI). By utilizing Explainable AI techniques, specifically Local Interpretable Model-agnostic Explanations (LIME) and SHapley Additive exPlanations (SHAP), the decision-making process of the models is ensured to be transparent, thereby bolstering trust in AI-driven decisions. Results: Features identified by RF in Wrapper-based techniques and the Chi-square in Filter-based techniques have been shown to enhance prediction performance. A notable precision and recall values, reaching up to 0.9 is achieved in predicting diabetes. Discussion: Both approaches are found to assign considerable importance to features like age, family history of diabetes, polyuria, polydipsia, and high blood pressure, which are strongly associated with diabetes. In this age of data-driven healthcare, the research presented here aspires to substantially improve healthcare outcomes.

Mitigating Bias in Radiology Machine Learning: 1. Data Handling.

Minimizing bias is critical to adoption and implementation of machine learning (ML) in clinical practice. Systematic mathematical biases produce consistent and reproducible differences between the observed and expected performance of ML systems, resulting in suboptimal performance. Such biases can be traced back to various phases of ML development: data handling, model development, and performance evaluation. This report presents 12 suboptimal practices during data handling of an ML study, explains how those practices can lead to biases, and describes what may be done to mitigate them. Authors employ an arbitrary and simplified framework that splits ML data handling into four steps: data collection, data investigation, data splitting, and feature engineering. Examples from the available research literature are provided. A Google Colaboratory Jupyter notebook includes code examples to demonstrate the suboptimal practices and steps to prevent them. Keywords: Data Handling, Bias, Machine Learning, Deep Learning, Convolutional Neural Network (CNN), Computer-aided Diagnosis (CAD) © RSNA, 2022.

Mitigating Bias in Radiology Machine Learning: 3. Performance Metrics.

The increasing use of machine learning (ML) algorithms in clinical settings raises concerns about bias in ML models. Bias can arise at any step of ML creation, including data handling, model development, and performance evaluation. Potential biases in the ML model can be minimized by implementing these steps correctly. This report focuses on performance evaluation and discusses model fitness, as well as a set of performance evaluation toolboxes: namely, performance metrics, performance interpretation maps, and uncertainty quantification. By discussing the strengths and limitations of each toolbox, our report highlights strategies and considerations to mitigate and detect biases during performance evaluations of radiology artificial intelligence models. Keywords: Segmentation, Diagnosis, Convolutional Neural Network (CNN) © RSNA, 2022.

Applying Deep Learning to Establish a Total Hip Arthroplasty Radiography Registry: A Stepwise Approach.

BACKGROUND: Establishing imaging registries for large patient cohorts is challenging because manual labeling is tedious and relying solely on DICOM (digital imaging and communications in medicine) metadata can result in errors. We endeavored to establish an automated hip and pelvic radiography registry of total hip arthroplasty (THA) patients by utilizing deep-learning pipelines. The aims of the study were (1) to utilize these automated pipelines to identify all pelvic and hip radiographs with appropriate annotation of laterality and presence or absence of implants, and (2) to automatically measure acetabular component inclination and version for THA images. METHODS: We retrospectively retrieved 846,988 hip and pelvic radiography DICOM files from 20,378 patients who underwent primary or revision THA performed at our institution from 2000 to 2020. Metadata for the files were screened followed by extraction of imaging data. Two deep-learning algorithms (an EfficientNetB3 classifier and a YOLOv5 object detector) were developed to automatically determine the radiographic appearance of all files. Additional deep-learning algorithms were utilized to automatically measure the acetabular angles on anteroposterior pelvic and lateral hip radiographs. Algorithm performance was compared with that of human annotators on a random test sample of 5,000 radiographs. RESULTS: Deep-learning algorithms enabled appropriate exclusion of 209,332 DICOM files (24.7%) as misclassified non-hip/pelvic radiographs or having corrupted pixel data. The final registry was automatically curated and annotated in <8 hours and included 168,551 anteroposterior pelvic, 176,890 anteroposterior hip, 174,637 lateral hip, and 117,578 oblique hip radiographs. The algorithms achieved 99.9% accuracy, 99.6% precision, 99.5% recall, and a 99.6% F1 score in determining the radiograph appearance. CONCLUSIONS: We developed a highly accurate series of deep-learning algorithms to rapidly curate and annotate THA patient radiographs. This efficient pipeline can be utilized by other institutions or registries to construct radiography databases for patient care, longitudinal surveillance, and large-scale research. The stepwise approach for establishing a radiography registry can further be utilized as a workflow guide for other anatomic areas. LEVEL OF EVIDENCE: Diagnostic Level IV . See Instructions for Authors for a complete description of levels of evidence.