Our results indicate that effector T lymphocytes from active CD become resistant to suppression by Tregs. This resistance might cause loss of tolerance to gluten, but also to self-antigens.
The risk of thromboembolism is increased in inflammatory bowel disease and its symptoms may be overlooked. The commonest are deep vein thrombosis and pulmonary emboli. Cerebral thrombosis, in a particular stroke, is rare. Furthermore, its treatment can be complex. We present the cases of 4 patients with cerebral vascular involvement.
The purpose of this study, making use of systematic records on computer over a period of 12 years, was to compare the prevalence and the demographic characteristics of patients with peptic stricture with those having a reflux esophagitis. As compared with 3880 cases of erosive and/or ulcerative esophagitis, the percentage of peptic stricture patients was 1.21%. The latter were on average nine years older and more frequently had a hiatus hernia. Ten patients with peptic stricture had had severe esophagitis previously recorded in our department. Thirty-four peptic stricture patients (72.3%) had at least one condition reported as possibly provocative of stricture. This study stresses the point that the incidence of peptic esophageal stricture is probably far lower than had been reported previously. Consequently, management of low-grade reflux esophagitis should be aimed primarily at relieving symptoms rather than healing esophageal lesions to prevent stricture.
Background
Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and Familial Rosai–Dorfman disease (RDD). Herein, we report five new patients from a single family who present with phenotypes that associate features of H syndrome and Familial Rosai–Dorfman disease.
Methods
We investigated the clinical, biochemical, histopathological and molecular findings in five Tunisian family members' diagnosed with Familial RDD and/or H syndrome. The solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3) gene was screened for molecular diagnosis using direct Sanger sequencing.
Results
Genetic analysis of all affected individuals revealed a previously reported missense mutation c.1088 G > A [p.Arg363Gln] in exon 6 of the SLC29A3 gene. Four affected members presented with clinical features consistent with the classical H syndrome phenotype. While their cousin’s features were in keeping with Familial Rosai–Dorfman disease diagnosis with a previously undescribed cutaneous RDD presenting as erythematous nodular plaques on the face. This report underlines the clinical variability of SLC29A3 disorders even with an identical mutation in the same family.
Conclusion
We report a rare event of 5 Tunisian family members' found to be homozygous for SLC29A3 gene mutations but showing a different phenotype severity. Our study reveals that despite a single mutation, the clinical expression of the SLC29A3 disorders may be significantly heterogeneous suggesting a poor genotype–phenotype correlation for the disease.
Malignant epithelioid hemangioendothelioma (EH) is a rare tumor of vascular origin. We report a case of a woman who was found to have multiple hepatic masses in the right lobe of the liver on radiologic investigations, initially misdiagnosed as a metastatic carcinoma. The diagnosis of EH was made on histopathological study and confirmed by immunohistochemistry, which showed diffuse response for CD34 marker and no response to tissue CEA, HMB-45 or S-100 protein. Partial hepatectomy was made with good results.
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