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Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.

Authors :
Viti, Federica
De Giorgio, Roberto
Ceccherini, Isabella
Ahluwalia, Arti
Alves, Maria M.
Baldo, Chiara
Baldussi, Giannina
Bonora, Elena
Borrelli, Osvaldo
Dall'Oglio, Luigi
De Coppi, Paolo
De Filippo, Carlotta
de Santa Barbara, Pascal
Diamanti, Antonella
Di Lorenzo, Carlo
Di Maulo, Ruggero
Galeone, Antonio
Gandullia, Paolo
Hashmi, Sohaib K.
Lacaille, Florence
Source :
Digestive Diseases & Sciences. Oct2023, Vol. 68 Issue 10, p3857-3871. 15p.
Publication Year :
2023

Abstract

Visceral myopathy is a rare, life-threatening disease linked to identified genetic mutations in 60% of cases. Mostly due to the dearth of knowledge regarding its pathogenesis, effective treatments are lacking. The disease is most commonly diagnosed in children with recurrent or persistent disabling episodes of functional intestinal obstruction, which can be life threatening, often requiring long-term parenteral or specialized enteral nutritional support. Although these interventions are undisputedly life-saving as they allow affected individuals to avoid malnutrition and related complications, they also seriously compromise their quality of life and can carry the risk of sepsis and thrombosis. Animal models for visceral myopathy, which could be crucial for advancing the scientific knowledge of this condition, are scarce. Clearly, a collaborative network is needed to develop research plans to clarify genotype–phenotype correlations and unravel molecular mechanisms to provide targeted therapeutic strategies. This paper represents a summary report of the first 'European Forum on Visceral Myopathy'. This forum was attended by an international interdisciplinary working group that met to better understand visceral myopathy and foster interaction among scientists actively involved in the field and clinicians who specialize in care of people with visceral myopathy. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
01632116
Volume :
68
Issue :
10
Database :
Academic Search Index
Journal :
Digestive Diseases & Sciences
Publication Type :
Academic Journal
Accession number :
172312238
Full Text :
https://doi.org/10.1007/s10620-023-08066-1