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Precision Medicine for High-Risk Gene Fusions in Pediatric AML: a focus on KMT2A, NUP98, and GLIS2 Rearrangements.
Blood
January 2025
Children's Hospital of Philadelphia & University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States.
Robust genetic characterization of paediatric AML has demonstrated that fusion oncogenes are highly prevalent drivers of AML leukemogenesis in young children. Identification of fusion oncogenes associated with adverse outcomes has facilitated risk stratification of patients, although successful development of precision medicine approaches for most fusion-driven AML subtypes have been historically challenging. This knowledge gap has been in part due to difficulties in targeting structural alterations involving transcription factors and in identification of a therapeutic window for selective inhibition of the oncofusion without deleterious effects upon essential wild-type proteins.
View Article and Find Full Text PDFThe role of genetic sequencing in the diagnostic work-up for chronic immune thrombocytopenia.
Blood Adv
January 2025
Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London, United Kingdom, London, United Kingdom.
Immune Thrombocytopenia (ITP) is a heterogenous autoimmune disorder diagnosed by excluding other conditions. Misdiagnosis of primary ITP occurs in patients with inherited thrombocytopenia and primary immunodeficiency syndromes. This study investigates whether genetic testing for inherited thrombocytopenia or primary immunodeficiency can enhance diagnostic accuracy in ITP, and guide treatment strategies.
View Article and Find Full Text PDFHighly multiplexed imaging reveals prognostic immune and stromal spatial biomarkers in breast cancer.
JCI Insight
January 2025
Department of Biomedical Engineering, Oregon Health and Science University, Portland, United States of America.
Spatial profiling of tissues promises to elucidate tumor-microenvironment interactions and generate prognostic and predictive biomarkers. We analyzed single-cell, spatial data from three multiplex imaging technologies: cyclic immunofluorescence (CycIF) data we generated from 102 breast cancer patients with clinical follow-up, and publicly available imaging mass cytometry and multiplex ion-beam imaging datasets. Similar single-cell phenotyping results across imaging platforms enabled combined analysis of epithelial phenotypes to delineate prognostic subtypes among estrogen-receptor positive (ER+) patients.
View Article and Find Full Text PDFPDGFRα inhibition reduces myofibroblast expansion in the fibrotic rim and enhances recovery after ischemic stroke.
J Clin Invest
January 2025
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Ischemic stroke is a major cause of adult disability. Early treatment with thrombolytics and/or thrombectomy can significantly improve outcomes; however, following these acute interventions, treatment is limited to rehabilitation therapies. Thus, the identification of therapeutic strategies that can help restore brain function in the post-acute phase remains a major challenge.
View Article and Find Full Text PDF[Occurrence of methicillin-resistant Staphylococcus aureus strains at the University Hospital Olomouc].
Klin Mikrobiol Infekc Lek
March 2024
Institute of Microbiology, Faculty of Medicine, Palacky University in Olomouc, Czech Repubic, e-mail:
Objective: This study aimed to evaluate the occurrence of methicillin-resistant Staphylococcus aureus (MRSA) at the University Hospital Olomouc (UHO) over a 10-year period (2013-2022).
Material And Methods: Data was obtained from the ENVIS LIMS laboratory information system (DS Soft, Czech Republic, Olomouc) of the Department of Microbiology, UHO, for the period 1/1/2013-31/12/2022. Standard microbiological procedures using the MALDI-TOF MS system (Biotyper Microflex, Bruker Daltonics) were applied for the identification.
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