Literature DB >> 28243882

Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership.

A M Boyce1,2,3, A Turner4, L Watts4, L Forestier-Zhang4, A Underhill5, R Pinedo-Villanueva4, F Monsell6, D Tessaris7, C Burren6, L Masi8, N Hamdy9, M L Brandi8, R Chapurlat10, M T Collins1, Muhammad Kassim Javaid11.   

Abstract

To develop consensus on improving the management of patients, we convened an international workshop involving patients, clinicians, and researchers. Key findings included the diagnostic delay and variability in subsequent management with agreement to develop an international natural history study. We now invite other stakeholders to join the partnership.
PURPOSE: The aim of this study was develop a consensus on how to improve the management of patients with fibrous dysplasia and prioritize areas for research
METHODS: An international workshop was held over 3 days involving patients, clinicians, and researchers. Each day had a combination of formal presentations and facilitated discussions that focused on clinical pathways and research.
RESULTS: The patient workshop day highlighted the variability of patients' experience in getting a diagnosis, the knowledge of general clinical staff, and understanding long-term outcomes. The research workshop prioritized collaborations that improved understanding of the contemporary natural history of fibrous dysplasia/McCune-Albright syndrome (FD/MAS). The clinical workshop outlined the key issues around diagnostics, assessment of severity, treatment and monitoring of patients.
CONCLUSIONS: In spite of advances in understanding the genetic and molecular underpinnings of fibrous dysplasia/McCune-Albright syndrome, clinical management remains a challenge. From the workshop, a consensus was reached to create an international, multi-stakeholder partnership to advance research and clinical care in FD/MAS. We invite other stakeholders to join the partnership.

Entities:  

Keywords:  Epidemiology; Fibrous dysplasia; McCune-Albright syndrome; Patient-centered care

Mesh:

Year:  2017        PMID: 28243882      PMCID: PMC5653227          DOI: 10.1007/s11657-016-0271-6

Source DB:  PubMed          Journal:  Arch Osteoporos            Impact factor:   2.617


  7 in total

1.  Physical function is impaired but quality of life preserved in patients with fibrous dysplasia of bone.

Authors:  Marilyn H Kelly; Beth Brillante; Harvey Kushner; Pamela Gehron Robey; Michael T Collins
Journal:  Bone       Date:  2005-09       Impact factor: 4.398

2.  Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines.

Authors:  Valérie Bousson; Caroline Rey-Jouvin; Jean-Denis Laredo; Martine Le Merrer; Nadine Martin-Duverneuil; Antoine Feydy; Sébastien Aubert; Roland Chapurlat; Philippe Orcel
Journal:  Eur J Radiol       Date:  2014-06-30       Impact factor: 3.528

3.  An instrument to measure skeletal burden and predict functional outcome in fibrous dysplasia of bone.

Authors:  Michael T Collins; Harvey Kushner; James C Reynolds; Caroline Chebli; Marilyn H Kelly; Anurag Gupta; Beth Brillante; Arabella I Leet; Mara Riminucci; Pamela Gehron Robey; Paolo Bianco; Shlomo Wientroub; Clara C Chen
Journal:  J Bone Miner Res       Date:  2004-11-16       Impact factor: 6.741

4.  Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome.

Authors:  Arabella I Leet; Caroline Chebli; Harvey Kushner; Clara C Chen; Marilyn H Kelly; Beth A Brillante; Pamela G Robey; Paolo Bianco; Shlomo Wientroub; Michael T Collins
Journal:  J Bone Miner Res       Date:  2003-12-22       Impact factor: 6.741

5.  Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

Authors:  L S Weinstein; A Shenker; P V Gejman; M J Merino; E Friedman; A M Spiegel
Journal:  N Engl J Med       Date:  1991-12-12       Impact factor: 91.245

6.  Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions.

Authors:  M H Kelly; B Brillante; M T Collins
Journal:  Osteoporos Int       Date:  2007-07-11       Impact factor: 4.507

Review 7.  Disorders of Sex Development (DSD): Networking and Standardization Considerations.

Authors:  D E Sandberg; N Callens; A B Wisniewski
Journal:  Horm Metab Res       Date:  2015-05-13       Impact factor: 2.936

  7 in total
  6 in total

Review 1.  DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome.

Authors:  Luis F de Castro; Diana Ovejero; Alison M Boyce
Journal:  Eur J Endocrinol       Date:  2020-05       Impact factor: 6.664

Review 2.  Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.

Authors:  Muhammad Kassim Javaid; Alison Boyce; Natasha Appelman-Dijkstra; Juling Ong; Patrizia Defabianis; Amaka Offiah; Paul Arundel; Nick Shaw; Valter Dal Pos; Ann Underhil; Deanna Portero; Lisa Heral; Anne-Marie Heegaard; Laura Masi; Fergal Monsell; Robert Stanton; Pieter Durk Sander Dijkstra; Maria Luisa Brandi; Roland Chapurlat; Neveen Agnes Therese Hamdy; Michael Terrence Collins
Journal:  Orphanet J Rare Dis       Date:  2019-06-13       Impact factor: 4.123

3.  Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report.

Authors:  Tiao Lin; Xin-Yu Li; Chang-Ye Zou; Wei-Wei Liu; Jun-Fan Lin; Xin-Xin Zhang; Si-Qi Zhao; Xian-Biao Xie; Gang Huang; Jun-Qiang Yin; Jing-Nan Shen
Journal:  World J Clin Cases       Date:  2020-12-06       Impact factor: 1.337

4.  Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain.

Authors:  Tayane Muniz Fighera; Poli Mara Spritzer
Journal:  Case Rep Endocrinol       Date:  2017-06-06

5.  Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR.

Authors:  Francesca Marta Elli; Luisa de Sanctis; Massimiliano Bergallo; Maria Antonia Maffini; Arianna Pirelli; Ilaria Galliano; Paolo Bordogna; Maura Arosio; Giovanna Mantovani
Journal:  Front Genet       Date:  2019-09-18       Impact factor: 4.599

Review 6.  Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation.

Authors:  Alison M Boyce; Michael T Collins
Journal:  Endocr Rev       Date:  2020-04-01       Impact factor: 19.871

  6 in total

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