In this review, we delineate clinical, electrodiagnostic, and radiographic features of ulnar mononeuropathies. Ulnar neuropathy at the elbow (UNE) is most commonly due to lesions at the level of the retroepicondylar groove (RTC), with approximately 25% at the humeroulnar arcade (HUA). The term 'cubital tunnel syndrome' should be reserved for the latter. The diagnostic accuracy of nerve conduction studies is limited by biological (e.g. low elbow temperature) and technical factors. Across-elbow distance measurements greater than 10 cm improve diagnostic specificity at the expense of decreased sensitivity. Short-segment incremental studies can differentiate lesions at the HUA from those at the RTC.
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Seizure
January 2025
Neurology department, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Objectives: There have been conflicting reports about the frequency of neural autoantibodies in epilepsy cohorts, which is confounded by the lack of clear distinction of epilepsy from acute symptomatic seizures due to encephalitis. The aim of this study was to determine the frequency of neural autoantibodies in a well characterised population of refractory focal epilepsy of known and unknown cause.
Methods: Cases were recruited from epilepsy outpatient clinics at the Princess Alexandra, Mater, Royal Brisbane and Women's and Cairns Base Hospitals from 2021 - 2023.
Comput Biol Med
January 2025
Department of Electrical and Computer Engineering, University of Florida, Gainesville, FL, 32610, United States; Department of Medicine, University of Florida, Gainesville, FL, 32610, United States; Department of Health Outcomes and Biomedical Informatics, University of Florida, Gainesville, FL, 32610, United States; Intelligent Clinical Care Center, University of Florida, Gainesville, FL, 32610, United States. Electronic address:
Retinal image registration is essential for monitoring eye diseases and planning treatments, yet it remains challenging due to large deformations, minimal overlap, and varying image quality. To address these challenges, we propose RetinaRegNet, a multi-stage image registration model with zero-shot generalizability across multiple retinal imaging modalities. RetinaRegNet begins by extracting image features using a pretrained latent diffusion model.
View Article and Find Full Text PDFBlood
January 2025
Memorial Sloan Kettering Cancer Center, New York, New York, United States.
A mixed phenotype is characteristic of de novo Mixed Phenotype Acute Leukemia (MPAL) but can also be seen in other leukemias. It poses substantial classification and management dilemmas. Herein, we report a large cohort of acute leukemia with a mixed phenotype and define Acute Myeloid Leukemia with Mixed Phenotype (AML-MP) and MPAL as two distinct groups by characterizing the clinical, genetic, and transcriptomic features.
View Article and Find Full Text PDFJ Med Internet Res
January 2025
Vibrent Health, Inc, Fairfax, VA, United States.
Background: Longitudinal cohort studies have traditionally relied on clinic-based recruitment models, which limit cohort diversity and the generalizability of research outcomes. Digital research platforms can be used to increase participant access, improve study engagement, streamline data collection, and increase data quality; however, the efficacy and sustainability of digitally enabled studies rely heavily on the design, implementation, and management of the digital platform being used.
Objective: We sought to design and build a secure, privacy-preserving, validated, participant-centric digital health research platform (DHRP) to recruit and enroll participants, collect multimodal data, and engage participants from diverse backgrounds in the National Institutes of Health's (NIH) All of Us Research Program (AOU).
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
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