Document Detail


A unifying working hypothesis for Juvenile polyposis syndrome and Ménétrier's disease: Specific localization or concomitant occurrence of a separate entity?
MedLine Citation:
PMID:  22748914     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
BACKGROUND: Juvenile polyposis syndrome with gastric involvement may mimic Ménétrier's disease, which is correlated to transforming growth factor (TGF)α overproduction and PDX1 upregulation in the gastric fundus. AIM: We report a family with Juvenile polyposis syndrome where one member showed typical features of Ménétrier's disease and concomitant Helicobacter pylori infection. METHODS: We studied a 31-year-old woman belonging to a family with Juvenile polyposis syndrome, who exhibited a particular form of hyperplastic gastropathy diagnosed as Ménétrier's disease with Helicobacter pylori infection. RESULTS: TGFα overexpression and undetectable PDX1 expression were demonstrated in the fundic gastric biopsy specimens. In all affected members of the family we identified a 4-bp deletion in exon 9 of SMAD4 gene, a mutation usually associated with a more virulent form of Juvenile polyposis syndrome with a higher incidence of gastric and colonic polyposis. CONCLUSION: To explain the association of Juvenile polyposis syndrome with Ménétrier's disease we hypothesized a new mechanism that involves TGFβ-SMAD4 pathway inactivation and TGFα overexpression related to Helicobacter pylori infection.
Authors:
Ada Piepoli; Gianluigi Mazzoccoli; Anna Panza; Virginia Tirino; Giuseppe Biscaglia; Annamaria Gentile; Maria Rosa Valvano; Celeste Clemente; Vincenzo Desiderio; Gianpaolo Papaccio; Michele Bisceglia; Angelo Andriulli
Related Documents :
4210684 - Tuberculous meningitis as a complication of sarcoidosis.
14158544 - Enteroviral and mumps meningitis in toronto, 1963.
8723854 - Bacterial meningitis and cauda equina syndrome after epidural steroid injections.
19483664 - Coccidioides immitis meningitis in a patient with hyperimmunoglobulin e syndrome due to...
2195034 - Orthopaedic aspects of fragile-x syndrome.
24991164 - A case of recurrent neuroleptic malignant syndrome.
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-27
Journal Detail:
Title:  Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver     Volume:  -     ISSN:  1878-3562     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-7-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100958385     Medline TA:  Dig Liver Dis     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
Affiliation:
Laboratory of Gastroenterology, Scientific Institute and Regional General Hospital "Casa Sollievo della Sofferenza", S. Giovanni Rotondo, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Features associated with recurrence beyond 5 years after nephrectomy and nephron-sparing surgery for...
Next Document:  Part II - The effect of data on waste behaviour: The South African waste information system.