Progressive multifocal leukoencephalopathy (PML) is a rare, typically fatal, demyelinating central nervous system infection caused by reactivation of the John Cunningham virus that generally occurs in immunosuppressed patients. With an evolving understanding of a greater clinical heterogeneity of PML and significant implications for therapy, PML should be considered in the differential diagnosis of neurologic presentations of rheumatic diseases. Increased awareness of PML among rheumatologists is required, as earlier diagnosis and restoration of immune function may improve the otherwise grim prognosis associated with PML.
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http://dx.doi.org/10.1016/j.rdc.2016.09.009 | DOI Listing |
Acta Neuropathol Commun
January 2025
Department of Neuro-Oncology, Columbia University Irving Medical Center, 710 W. 168th Street, New York, NY, 10032, USA.
Glioblastoma (GBM) classification involves a combination of histological and molecular signatures including IDH1/2 mutation, TERT promoter mutation, and EGFR amplification. Non-canonical mutations such as BRAF, found in 1-2% of GBMs, activate the MEK-ERK signaling pathway. This mutation can be targeted by small molecule inhibitors, offering therapeutic potential for GBM.
View Article and Find Full Text PDFThyroid
January 2025
Department of Radiology and Research Institute of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
The longest reported follow-up for thermal ablation of papillary thyroid microcarcinoma (PTMC) is 5 years. We evaluated the long-term efficacy and safety of radiofrequency ablation (RFA) in patients with low-risk PTMC with clinical follow-up of more than 10 years. In this retrospective cohort study, we included patients with low-risk PTMC who had more than 10 years of follow-up after ultrasound (US)-guided RFA (performed between May 2008 and December 2013).
View Article and Find Full Text PDFViruses
December 2024
Life Sciences, Health, and Engineering Department, The Roux Institute, Northeastern University, Portland, ME 04101, USA.
JC polyomavirus (JCPyV) establishes a persistent, asymptomatic kidney infection in most of the population. However, JCPyV can reactivate in immunocompromised individuals and cause progressive multifocal leukoencephalopathy (PML), a fatal demyelinating disease with no approved treatment. Mutations in the hypervariable non-coding control region (NCCR) of the JCPyV genome have been linked to disease outcomes and neuropathogenesis, yet few metanalyses document these associations.
View Article and Find Full Text PDFBiomedicines
January 2025
Second Department of Internal Medicine, Division of Nephrology, Kansai Medical University, Hirakata 573-1010, Japan.
: Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy primarily involving motor and sensory neurons. Mutations in INF2, an actin assembly factor, cause two diseases: peripheral neuropathy CMT-DIE (MIM614455) and/or focal segmental glomerulosclerosis (FSGS). These two phenotypes arise from the progressive degeneration affecting podocytes and Schwann cells.
View Article and Find Full Text PDFAntioxidants (Basel)
December 2024
Department of Physiology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Medyków 18, 40-752 Katowice, Poland.
Electroretinography (ERG) is a non-invasive technique for evaluating the retinal function in various ocular diseases. Its results are useful for diagnosing ocular disorders and assessing disease progression or treatment effectiveness. Since numerous studies are based on animal models, validating the ERG results from animals is pivotal.
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