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Microvillous Inclusion Disease: An Exceedingly Rare Condition With a New Treatment.
ACG Case Rep J
October 2024
Division of Gastroenerology and Hepatology, University of Creighton, Omaha, NE.
Article Synopsis
- Syndromes with congenital diarrhea, hearing loss, and intrahepatic cholestasis are rare and often misdiagnosed as PFIC, but recent genetic studies have identified new genes related to these disorders.
- A 20-year-old woman, diagnosed with PFIC type 1 during childhood, experienced a resurgence of symptoms after a long period of being symptom-free, leading to the use of odevixibat for treatment.
- Whole genome sequencing revealed novel mutations indicating microvillous inclusion disease (MVID), and odevixibat showed effectiveness in alleviating cholestatic pruritus associated with this condition.
Aims: To report the results and successes of intestinal transplantation (ITx) in the most active European centres, to emphasize that, although it is a difficult procedure, it should remain a therapeutic option for children with total, definitive and complicated intestinal failure when intestinal rehabilitation fails.
Methods: We retrospectively collected data about all patients less than 18 receiving an ITx from 2010 to 2022 in 8 centres, and outcomes in July 2022.
Results: ITx was performed in 155 patients, median age 6.
Myosin Vb as a tumor suppressor gene in intestinal cancer.
Oncogene
December 2022
Group of Biomedical Research in Digestive Tract Tumors, Vall d'Hebron University Hospital Research Institute (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Colorectal cancer causes >900,000 deaths every year and a deeper understanding of the molecular mechanisms underlying this disease will contribute to improve its clinical management and survival. Myosin Vb (MYO5B) regulates intracellular vesicle trafficking, and inactivation of this myosin disrupts the polarization and differentiation of intestinal epithelial cells causing microvillous inclusion disease (MVID), a rare congenital disorder characterized by intractable life-threatening diarrhea. Here, we show that the loss Myosin Vb interfered with the differentiation/polarization of colorectal cancer cells.
View Article and Find Full Text PDFCongenital enteropathies involving defects in enterocyte structure or differentiation.
Best Pract Res Clin Gastroenterol
March 2022
Department of Genetics, Hôpital Necker-Enfants Malades, 149, Rue de Sèvres, 75743, PARIS Cedex 15, France.
Congenital enteropathies (CE) are a group of rare inherited diseases with a typical onset early in life. They involve defects in enterocyte structure or differentiation. They can cause a severe condition of intestinal failure (IF).
View Article and Find Full Text PDFCongenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis.
Indian J Pediatr
November 2021
Departments of Pediatrics and Pathology, All India Institute of Medical Sciences, New Delhi 110029, India.
Congenital diarrhea and enteropathies (CODEs) are monogenic disorders causing early onset of intractable diarrhea. Their diagnosis and management are challenging. With the availability of commercial next generation genetic testing, we are now better able to classify and manage these disorders.
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