Objective: To determine the interobserver reliability of the Roenigk score as a classification system of liver damage and its possible consequences for clinical practice.
Design: Retrospective study.
Setting: Academic research. Patients One hundred sixty liver biopsy specimens from patients with psoriasis receiving methotrexate treatment were rereviewed and analyzed blindly by an experienced pathologist with an interest in liver pathologic conditions. Main Outcome Measure Interobserver variation was evaluated using kappa statistics.
Results: A high concordance was present in the evaluation of the Roenigk grade of fibrosis (weighted kappa = 0.73; 95% confidence interval, 0.63-0.83). Agreement was good regarding the number of biopsy specimens for patients whose clinical management should be changed (kappa = 0.71; 95% confidence interval, 0.56-0.87). Conclusion The Roenigk classification in the assessment of liver fibrosis is a reliable scoring system.
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http://dx.doi.org/10.1001/archderm.143.12.1515 | DOI Listing |
Pediatr Nephrol
January 2025
Department of Translational Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Background: Coenzyme Q10 (CoQ10) nephropathy is a well-known cause of hereditary steroid-resistant nephrotic syndrome, primarily impacting podocytes. This study aimed to elucidate variations in individual cell-level gene expression in CoQ10 nephropathy using single-cell transcriptomics.
Methods: We conducted single-cell sequencing of a kidney biopsy specimen from a 5-year-old boy diagnosed with a CoQ10 nephropathy caused by a compound heterozygous COQ2 mutation complicated with immune complex-mediated glomerulonephritis.
Nat Cancer
January 2025
Department of Discovery Oncology, Genentech, South San Francisco, CA, USA.
Multiple next-generation molecules targeting estrogen receptor α (ERα) are being investigated in breast cancer clinical trials, encompassing thousands of women globally. Development of these molecules was partly motivated by the discovery of resistance-associated mutations in ESR1 (encodes ERα). Here, we studied the impact of ERα antagonist/degraders against Esr1 mutations expressed in mouse mammary glands.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and Helsinki University Hospital, P.O. Box 263, 00029, Helsinki, Finland.
Three-dimensional (3D) modeling is often used to provide better visual understanding. This has become an everyday tool especially in medical imaging. However, modeling soft tissue histopathology in 3D is in its early stages, thus making 3D comparison between radiology and histopathology difficult.
View Article and Find Full Text PDFPrimary ciliary dyskinesia (PCD, OMIM 244400) is a rare genetic disorder that affects motile cilia and is characterised by impaired mucociliary clearance of the airway epithelium, which results in chronic upper and lower airway infections. While short-read next-generation sequencing technology has been used for the genetic testing of PCD, its effectiveness is limited in identifying variants in the gene because of the nearly identical pseudogene As we confirmed that the gene was not expressed in airway cells, we obtained nasal mucosa biopsy specimens for total RNA sequencing (RNA-seq) with library enrichment using exome oligos. Among the 34 nasal samples from patients suspected of having PCD, three aberrant splicing patterns in were identified in two samples.
View Article and Find Full Text PDFCancer Cytopathol
February 2025
Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.
Background: Fumarate hydratase-deficient renal cell carcinoma (FHRCC) is an aggressive carcinoma that typically presents as advanced-stage disease. Prompt recognition of FHRCC is critical for appropriate clinical care and genetic counseling for patients and family members. However, diagnosing FHRCC from cytology specimens is challenging, with limited characterization and no reports describing prospectively identified cases.
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