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Leptomeningeal dissemination in H3 K27M- mutant diffuse midline gliomas: clinical characteristics, risk factors, and prognostic insights.
J Neurooncol
January 2025
Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing, 100093, China.
Purpose: This study aimed to describe the incidence, clinical and pathological features, and outcomes of H3 K27M- mutant Diffuse Midline Glioma (DMG) patients with leptomeningeal dissemination (LMD) and systematically investigate the predictive and prognostic factors to clarify the response to treatment after the onset of LMD.
Methods: A total of 304 patients diagnosed with DMG from October 17, 2017, to October 17, 2023, were enrolled in this study, of which 32 patients were diagnosed with LMD. Logistic regression analyses were conducted to identify the predictors of LMD, including clinical, molecular, and imaging data.
Patterns of Tau pathology in patients with anti-IgLON5 disease visualized by Florzolotau (18F) PET.
J Neurol
January 2025
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Background: Anti-IgLON5 disease is a rare autoimmune neurological disorder with prominent Tau protein deposits in the brainstem and hypothalamus. The aim of this study was to visualize the in vivo distribution patterns of Tau protein in patients with anti-IgLON5 disease using the second-generation Tau PET tracer, Florzolotau (18F) PET imaging.
Methods: Patients diagnosed with anti-IgLON5 disease were enrolled consecutively.
Predicting Alzheimer's disease subtypes and understanding their molecular characteristics in living patients with transcriptomic trajectory profiling.
Alzheimers Dement
January 2025
Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Introduction: Deciphering the diverse molecular mechanisms in living Alzheimer's disease (AD) patients is a big challenge but is pivotal for disease prognosis and precision medicine development.
Methods: Utilizing an optimal transport approach, we conducted graph-based mapping of transcriptomic profiles to transfer AD subtype labels from ROSMAP monocyte samples to ADNI and ANMerge peripheral blood mononuclear cells. Subsequently, differential expression followed by comparative pathway and diffusion pseudotime analysis were applied to each cohort to infer the progression trajectories.
Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis.
J Clin Endocrinol Metab
January 2025
Marmara University School of Medicine, Department of Pediatric Endocrinology, 34854, Istanbul, Turkey.
Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.
Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9.
Functional Analysis and Experimental Validation of the Prognostic and Immune Effects of the Oncogenic Protein CDC45 in Breast Cancer.
Breast Cancer (Dove Med Press)
January 2025
The Second Surgical Department of Breast Cancer, Tianjin Medical University Cancer Institute & Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin, People's Republic of China.
Purpose: Cell division cycle protein 45 (CDC45) plays a crucial role in DNA replication. This study investigates its role in breast cancer (BC) and its impact on tumor progression.
Methods: We utilized the GEO database to screen differentially expressed genes (DEGs) and conducted enrichment analysis on these genes.
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