↓ Skip to main content

Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

Overview of attention for article published in European Journal of Medical Genetics, January 2016
Altmetric Badge

Citations

dimensions_citation
54 Dimensions

Readers on

mendeley
72 Mendeley
Title
Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome
Published in
European Journal of Medical Genetics, January 2016
DOI 10.1016/j.ejmg.2015.11.008
Pubmed ID
Authors

Alessandro Mussa, Stefania Di Candia, Silvia Russo, Serena Catania, Maurizio De Pellegrin, Luisa Di Luzio, Mario Ferrari, Chiara Tortora, Maria Costanza Meazzini, Roberto Brusati, Donatella Milani, Giuseppe Zampino, Rosario Montirosso, Andrea Riccio, Angelo Selicorni, Guido Cocchi, Giovanni Battista Ferrero

Abstract

Beckwith-Wiedemann syndrome (BWS) is the most common (epi)genetic overgrowth-cancer predisposition disorder. Given the absence of consensual recommendations or international guidelines, the Scientific Committee of the Italian BWS Association (www.aibws.org) proposed these recommendations for the diagnosis, molecular testing, clinical management, follow-up and tumor surveillance of patients with BWS. The recommendations are intended to allow a timely and appropriate diagnosis of the disorder, to assist patients and their families, to provide clinicians and caregivers optimal strategies for an adequate and satisfactory care, aiming also at standardizing clinical practice as a national uniform approach. They also highlight the direction of future research studies in this setting. With recent advances in understanding the disease (epi)genetic mechanisms and in describing large cohorts of BWS patients, the natural history of the disease will be dissected. In the era of personalized medicine, the emergence of specific (epi)genotype-phenotype correlations in BWS will likely lead to differentiated follow-up approaches for the molecular subgroups, to the development of novel tools to evaluate the likelihood of cancer development and to the refinement and optimization of current tumor screening strategies. In this article, we provide the first comprehensive recommendations on the complex management of patients with Beckwith-Wiedemann syndrome.

Mendeley readers

The data shown below were compiled from readership statistics for 72 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 72 100%

Demographic breakdown

Readers by professional status Count As %
Other 15 21%
Researcher 13 18%
Student > Bachelor 10 14%
Student > Master 9 13%
Student > Ph. D. Student 5 7%
Other 13 18%
Unknown 7 10%
Readers by discipline Count As %
Medicine and Dentistry 30 42%
Biochemistry, Genetics and Molecular Biology 8 11%
Nursing and Health Professions 8 11%
Psychology 6 8%
Computer Science 5 7%
Other 9 13%
Unknown 6 8%