Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma. Differential diagnosis with lupus erythematosus panniculitis (LEP) can be challenging and overlapping cases have been described. In this study, we investigate whether gene expression profiling may or not identify markers that can be used to improve our understanding of the disease and to make a precise differential diagnosis. SPTCL, LEP, and overlapping cases were analyzed using a customized NanoString platform including 208 genes related to T-cell differentiation, stromal signatures, oncogenes, and tumor suppressor genes. Gene expression unsupervised analysis of the samples differentiated SPTCL from LEP samples. Most overlapping cases were clustered with LEP cases. Differentially expressed genes were observed when comparing SPTCL with LEP cases; and overlapping with LEP cases. Gene set enrichment analysis recognized gene sets defining each group. In conclusion, SPTCL and LEP have distinctive molecular profiles and the molecular background of overlapping cases more closely resembles LEP.
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http://dx.doi.org/10.1080/10428194.2021.1901098 | DOI Listing |
Clin Rheumatol
January 2025
Rheumatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Objective: The objective of this study is to present the clinical characteristics of immunoglobulin G4-related diseases (IgG4-RD) patients and describe associated overlap with autoimmune rheumatic diseases (ARDs).
Patients And Methods: This cross-sectional study included 81 patients with IgG4-RD who were recruited from 13 specialized rheumatology departments and centers across the country in collaboration with the Egyptian College of Rheumatology (ECR). Patients underwent a thorough history-taking and clinical examination.
Alzheimers Dement
December 2024
The University of Sydney, Sydney, NSW, Australia.
Background: Hyperphosphorylated tau (pTau) in Alzheimer's disease (AD) brain tissue is a complex mix of multiple tau species that are variably phosphorylated on up to 55 epitopes. Emerging studies suggest that phosphorylation of specific epitopes may alter the role of tau. The role of specific pTau species can be explored through protein interaction ("interactome") studies.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Centre for Precision Health, Edith Cowan University, Joondalup, Western Australia, Australia.
Background: Whilst numerous studies have explored the relationship between Alzheimer's disease (AD) and diabetes, there remains significant conflicting evidence as to their relationship. Some studies suggest an increased likelihood of developing AD in individuals with diabetes, especially type 2 diabetes (T2D) and that both diseases share pathological features. In contrast, other studies indicate that T2D is more aligned with vascular cognitive impairment and dementia and associated cerebrovascular/white matter pathology.
View Article and Find Full Text PDFBackground: Single-nucleus RNA sequencing (snRNAseq) allows for the dissection of the cell type-specific transcriptional profiles of tissue specimens. In this study, we compared gene expression in multiple brain cell types in brain tissue from Alzheimer disease (AD) cases with no or other co-existing pathologies including Lewy body disease (LBD) and vascular disease (VaD).
Method: We evaluated differential gene expression measured from single nucleus RNA sequencing (snRNAseq) data generated from the hippocampus region tissue donated by 11 BU ADRC participants with neuropathologically confirmed AD with or without a co-existing pathology (AD-only = 3, AD+VaD = 6, AD+LBD = 2).
Alzheimers Dement
December 2024
Baylor College of Medicine, Houston, TX, USA.
Background: Alzheimer's Disease (AD) incidence is almost double in female than male, suggesting sex-specific AD risk genes remain unknown.
Method: We designed a statistical physics approach that exploits freely available but massive evolutionary and phylogenetic coupling data on sequence variation and speciation. These couplings lead to quantifiable values for the selection pressure exerted on the genes within a population.
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