Background: Tissue transglutaminase, the coeliac autoantigen, was shown to localise in the enterocytes of coeliac patients and controls. It was speculated that surface tissue transglutaminase has a role in the pathogenesis of coeliac disease.
Aims: To study localisation of tissue transglutaminase in different stages of coeliac disease and other enteropathies with and without villous flattening.
Methods: Immunofluorescent and immunoblotting assays were used. Duodenal cryostat sections from 23 coeliac patients (10 untreated, 8 treated, 5 potential) and 18 controls (2 autoimmune enteropathy and 16 normal duodenal mucosa) were incubated with an anti-tissue transglutaminase monoclonal antibody. Slides were blindly examined.
Results: The immunofluorescent assay showed that monoclonal antibody localised in the subepithelial layer, in the lamina propria, and in the pericryptal connective tissue of all samples. It also bound to surface enterocytes in 8/10 untreated, 1/8 treated, and 3/5 potential coeliac patients. None of the controls showed an epithelial distribution of tissue transglutaminase. Immunoblotting experiments performed in enterocytes freshly isolated from duodenal biopsy confirmed these findings.
Conclusion: Epithelial distribution of tissue transglutaminase is specific for coeliac disease rather than due to a non-specific mucosal inflammation. Analysis of different stages of coeliac disease suggests that the epithelial distribution of tissue transglutaminase is gluten dependent.
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http://dx.doi.org/10.1016/j.dld.2006.05.021 | DOI Listing |
Gene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
View Article and Find Full Text PDFCell Tissue Res
January 2025
Department of Organismal Biology, Uppsala University, Norbyvägen 18A, 75236, Uppsala, Sweden.
The hematopoietic tissue (HPT) and anterior proliferation center (APC) are the main hemocyte-producing organs of the freshwater crayfish, Pacifastacus leniusculus. To deepen our understanding of immune responses to various pathogens, it is essential to identify distinct hemocyte subpopulations with specific functions and to further explore how these cells are generated. Here we provide an in-depth histological study of the HPT and APC in order to localize cell types in different developmental stages, and to provide some information regarding the hemocyte differentiation in the crayfish.
View Article and Find Full Text PDFRetin Cases Brief Rep
December 2024
Department of Histopathology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Purpose: To report a case of bilateral anterior uveitis, pigmentary retinopathy, and pars plana exudates in a patient with Celiac disease with complete resolution of inflammation following gluten-free diet.
Methods: Retrospective case report.
Results: A 19-year-old Asian Indian girl presented with bilateral non-granulomatous anterior uveitis for the past 2 months.
J Gastrointestin Liver Dis
December 2024
Academic Unit of Gastroenterology, Sheffield Teaching Hospitals National Health Service Foundation Trust, Sheffield; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, United Kingdom.
Background And Aims: In coeliac disease, the clinical role of the urinary gluten immunogenic peptide is unclear. It has been suggested it can be a non-invasive marker of villous atrophy. Therefore, we present the largest cross-sectional clinical data in patients with coeliac disease to establish the diagnostic accuracy of the urinary gluten immunogenic peptide in identifying villous atrophy.
View Article and Find Full Text PDFSci Rep
December 2024
Kahn Sagol Maccabi Research & Innovation Center, Maccabi Healthcare Services, Tel Aviv, Israel.
Identifying which patients should undergo serologic screening for celiac disease (CD) may help diagnose patients who otherwise often experience diagnostic delays or remain undiagnosed. Using anonymized outpatient data from the electronic medical records of Maccabi Healthcare Services, we developed and evaluated five machine learning models to classify patients as at-risk for CD autoimmunity prior to first documented diagnosis or positive serum tissue transglutaminase (tTG-IgA). A train set of highly seropositive (tTG-IgA > 10X ULN) cases (n = 677) with likely CD and controls (n = 176,293) with no evidence of CD autoimmunity was used for model development.
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