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[Renal eosinophilic vacuolated tumor: a clinicopathological analysis of seven cases].
Zhonghua Bing Li Xue Za Zhi
September 2024
Department of Pathology, the Affiliated Hospital of Qingdao University, Qingdao 266003, China.
To investigate the clinicopathological features and differential diagnosis of eosinophilic vacuolated tumor (EVT). Seven cases of EVT with characteristic morphology and unequivocal diagnosis from the Affiliated Hospital of Qingdao University (6 cases), Qingdao, China and the 971 Hospital of PLA Navy (1 case), Qingdao, China between January 2010 and December 2021 were subject to morphological and immunohistochemical analyses. Additionally, whole exome sequencing (WES) was performed in two cases.
View Article and Find Full Text PDFDeciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study.
Acta Neuropathol Commun
August 2024
Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Article Synopsis
- - CSF1R-related disorder (CSF1R-RD) is a genetic neurodegenerative disease primarily affecting white matter due to mutations in the CSF1R gene, leading to a decline in brain function, particularly in an elderly man studied who showed symptoms of progressive dementia.
- - Brain autopsy revealed features characteristic of adult-onset leukoencephalopathy (ALSP) associated with CSF1R-RD, and a novel genetic deletion in CSF1R was uncovered, which standard genetic tests hadn't detected.
- - Further genomic analysis indicated two distinct states of microglia associated with the disease and showed that oligodendrocytes, critical for myelin formation, exhibited stress responses and failed to mature properly
Sweet syndrome associated with moderate leukocyte adhesion deficiency type I: a case report and review of the literature.
Front Immunol
July 2024
Eudowood Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Article Synopsis
- * A case study of a 16-month-old girl initially diagnosed with Sweet syndrome revealed that she actually had leukocyte adhesion deficiency type I (LAD-I), which is a genetic immune disorder.
- * This discovery marks the first documented connection between Sweet syndrome and LAD-I, highlighting the importance of thorough evaluations for patients with Sweet syndrome who do not respond to standard treatments.
The CSF1R gene, located on chromosome 5, encodes a 108 kDa protein and plays a critical role in regulating myeloid cell function. Mutations in CSF1R have been identified as a cause of a rare white matter disease called adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP, also known as CSF1R-related leukoencephalopathy), characterized by progressive neurological dysfunction. This study aimed to broaden the genetic basis of ALSP by identifying novel CSF1R variants in patients with characteristic clinical and imaging features of ALSP.
View Article and Find Full Text PDFIdentification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathy.
CNS Neurosci Ther
June 2024
Department of Neurology, Xuanwu Hospital Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Aims: Colony stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rapidly progressing neurodegenerative disease caused by CSF1R gene mutations. This study aimed to identify and investigate the effect of a novel intronic mutation (c.1754-3C>G) of CSF1R on splicing.
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