Viti, F;
De Giorgio, R;
Ceccherini, I;
Ahluwalia, A;
Alves, MM;
Baldo, C;
Baldussi, G;
... Heuckeroth, RO; + view all
(2023)
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Digestive Diseases and Sciences
, 68
pp. 3857-3871.
10.1007/s10620-023-08066-1.
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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. Graphical Abstract: [Figure not available: see fulltext.]
| Type: | Article |
|---|---|
| Title: | Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1007/s10620-023-08066-1 |
| Publisher version: | https://doi.org/10.1007/s10620-023-08066-1 |
| Language: | English |
| Additional information: | This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/. |
| Keywords: | ACTG2, Chronic intestinal pseudo-obstruction (CIPO), Gut dysmotility, MYL9, MYLK, Models of disease MYH11, Animals, Child, Humans, Quality of Life, Intestinal Pseudo-Obstruction, Malnutrition, Models, Animal, Mutation, Rare Diseases |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10179140 |
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