Progressive multifocal leukoencephalopathy (PML) is a severe disease of the central nervous system with very high mortality. It is caused by the JC virus with high seroprevalence, at up to 80%. Development of PML is typically opportunistic, particularly in acquired immunodeficiency syndrome, and usually affects patients with profound immunodeficiency. Furthermore, as a result of highly efficient immunosuppressive and immunomodulatory treatments in recent years, the number of PML cases has increased in the general population. In this article, the authors mention virological and epidemiological relationships and characteristic manifestations of PML. Possible relationships of humoral and cellular immunity are discussed and limited treatment options including prophylaxis are mentioned.
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Indian Dermatol Online J
December 2024
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Introduction: Acquired inflammatory Blaschko-linear dermatoses have not been studied extensively. Descriptive studies on segmental vitiligo have yielded insights helpful in counseling patients. Similar insights are expected from studies on other acquired inflammatory Blaschko-linear diseases.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Institute of Endocrinology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Background: Childhood autoimmune disorders involve the immune system attacking its own tissues, leading to varied symptoms, while autoinflammatory disorders result from innate immune system dysregulation, both requiring extensive diagnosis and multidisciplinary management due to their complexity.
Case Presentation: We present a unique clinical case of a teenager with a combination of autoimmune and autoinflammatory disorders. The initial manifestation of hip pain, coupled with progressive symptoms over several years and findings in multiple magnetic resonance imaging (MRI) scans, culminated in the diagnosis of chronic recurrent multifocal osteomyelitis (CRMO).
JAMA Netw Open
January 2025
Alzheimer Center Limburg, Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands.
Importance: Baseline cerebral microbleeds (CMBs) and APOE ε4 allele copy number are important risk factors for amyloid-related imaging abnormalities in patients with Alzheimer disease (AD) receiving therapies to lower amyloid-β plaque levels.
Objective: To provide prevalence estimates of any, no more than 4, or fewer than 2 CMBs in association with amyloid status, APOE ε4 copy number, and age.
Design, Setting, And Participants: This cross-sectional study used data included in the Amyloid Biomarker Study data pooling initiative (January 1, 2012, to the present [data collection is ongoing]).
Drugs R D
January 2025
Department of Pediatric Intensive Care Unit, Shandong, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 324 Jingwu Road, Ji'nan, Shandong, China.
Background And Objective: Alglucosidase alfa for injection is used as an enzyme replacement therapy for the treatment of Pompe disease. The safety profile of alglucosidase alfa-associated adverse events requires a comprehensive evaluation. In this study, we aimed to identify drug safety alert signals and investigate the real-world safety of alglucosidase alfa to guide clinical decision making and optimize the risk-benefit balance.
View Article and Find Full Text PDFRadiol Bras
January 2025
Faculdade de Ciências Médicas da Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brazil.
The middle cerebellar peduncle (MCP) is the largest afferent system of the cerebellum and consists of fibres from the cortico-ponto-cerebellar tract. Specifically, several relevant diseases can present with hyperintensity in the MCP on T2-weighted/fluid-attenuated inversion recovery (T2/FLAIR) magnetic resonance imaging sequences, including multiple sclerosis; acute disseminated encephalomyelitis; neuromyelitis optica spectrum disorder; progressive multifocal leucoencephalopathy; hepatic encephalopathy; osmotic demyelination syndrome; multiple system atrophy; fragile X-associated tremor/ataxia syndrome; megalencephalic leucoencephalopathy with subcortical cysts; spinocerebellar ataxias; hemi-pontine infarct with trans-axonal degeneration; and diffuse midline glioma with the histone H3K27M mutation. The aim of this pictorial review is to discuss the imaging findings that are relevant for the differential diagnosis of diseases presenting with MCP hyperintensity on T2/FLAIR sequences.
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