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Crohn-like Disease Affecting Small Bowel Due to Monogenic SLCO2A1 Mutations: First Cases of Chronic Enteropathy Associated with SLCO2A1 Gene [CEAS] in France.
J Crohns Colitis
May 2023
Department of Genomic Medecine for Rare Diseases, Necker-Enfants Malades Hospital, University of Paris-Cité, Paris, France.
Article Synopsis
- - Multiple chronic ulcers in the small intestine are often linked to Crohn's disease, but can also arise from issues related to abnormal prostaglandin activation or specific genetic mutations (like in the SLCO2A1 gene) affecting enteropathy.
- - A case involving two French sisters highlighted the identification of chronic enteropathy associated with SLCO2A1 (CEAS), revealing that this syndrome is not limited to Asian populations, as previously believed.
- - Genetic testing confirmed both sisters shared mutations in the SLCO2A1 gene, prompting the need for more awareness and genetic screening for this condition in European patients with recurrent intestinal issues resembling Crohn's disease.
Crohn-Like Colitis in a Young Boy With Hirschsprung Disease.
Inflamm Bowel Dis
August 2021
Department of Pediatrics, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Translational research into the effects of cigarette smoke on inflammatory mediators and epithelial TRPV1 in Crohn's disease.
PLoS One
October 2020
Department of Gastroenterology, Ghent University, Ghent, Belgium.
Crohn's disease is a pathological condition of the gastro-intestinal tract, causing severe transmural inflammation in the ileum and/or colon. Cigarette smoking is one of the best known environmental risk factors for the development of Crohn's disease. Nevertheless, very little is known about the effect of prolonged cigarette smoke exposure on inflammatory modulators in the gut.
View Article and Find Full Text PDFAmoebic colitis represents a common parasitic infection in developing countries. In western world, it is encountered only sporadically. The clinical presentation is usually non-specific, non-invasive laboratory tests are often false negative and endoscopic and histopathological appearance may mimic other illnesses, especially Crohns disease.
View Article and Find Full Text PDFDiagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation.
J Crohns Colitis
January 2016
Pediatric Hematology/Oncology/Immunology/Stem Cell Transplantation, Dr von Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.
Background And Aims: X-linked chronic granulomatous disease [X-CGD] due to hemizygous mutations in CYBB is characterised by invasive bacterial and fungal infections and granulomatous inflammation. Inflammatory bowel disease [IBD] is an additional or isolated manifestation. Allogeneic haematopoietic stem cell transplantation [alloHSCT] is the standard curative treatment.
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