Literature DB >> 28860391

The mucopolysaccharidoses: advances in medical care lead to challenges in orthopaedic surgical care.

N Williams1, D Challoumas2, D Ketteridge1, P J Cundy1, D M Eastwood3.   

Abstract

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders with clinical manifestations relevant to the orthopaedic surgeon. Our aim was to review the recent advances in their management and the implications for surgical practice. The current literature about MPSs is summarised, emphasising orthopaedic complications and their management. Recent advances in the diagnosis and management of MPSs include the recognition of slowly progressive, late presenting subtypes, developments in life-prolonging systemic treatment and potentially new indications for surgical treatment. The outcomes of surgery in these patients are not yet validated and some procedures have a high rate of complications which differ from those in patients who do not have a MPS. The diagnosis of a MPS should be considered in adolescents or young adults with a previously unrecognised dysplasia of the hip. Surgeons treating patients with a MPS should report their experience and studies should include the assessment of function and quality of life to guide treatment. Cite this article: Bone Joint J 2017;99-B:1132-9. ©2017 The British Editorial Society of Bone & Joint Surgery.

Entities:  

Keywords:  Mucopolysaccharidoses; Orthopaedic surgery; Outcomes

Mesh:

Year:  2017        PMID: 28860391     DOI: 10.1302/0301-620X.99B9.BJJ-2017-0487

Source DB:  PubMed          Journal:  Bone Joint J        ISSN: 2049-4394            Impact factor:   5.082


  7 in total

1.  Molecular profiling of failed endochondral ossification in mucopolysaccharidosis VII.

Authors:  Sun H Peck; John W Tobias; Eileen M Shore; Neil R Malhotra; Mark E Haskins; Margret L Casal; Lachlan J Smith
Journal:  Bone       Date:  2019-08-20       Impact factor: 4.398

2.  Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS).

Authors:  Maria Mattera; Margaret K Vernon; Mireia Raluy-Callado; Jaromir Mikl
Journal:  Health Qual Life Outcomes       Date:  2018-11-08       Impact factor: 3.186

3.  Tarsal tunnel syndrome in the mucopolysaccharidoses: A case series and literature review.

Authors:  Nicole Williams; Jake Willet; Damian Clark; David Ketteridge
Journal:  JIMD Rep       Date:  2019-03-14

4.  Hip pathologies in mucopolysaccharidosis type III.

Authors:  Sandra Rafaela Breyer; Eik Vettorazzi; Leonie Schmitz; Amit Gulati; Katharina Maria von Cossel; Alexander Spiro; Martin Rupprecht; Ralf Stuecker; Nicole Maria Muschol
Journal:  J Orthop Surg Res       Date:  2021-03-19       Impact factor: 2.359

Review 5.  Bone health in patients with inborn errors of metabolism.

Authors:  M Langeveld; C E M Hollak
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

6.  Diagnosis of Mucopolysaccharidosis Based on History and Clinical Features: Evidence from the Bajio Region of Mexico.

Authors:  Douglas Colmenares-Bonilla; Christian Colin-Gonzalez; Alejandra Gonzalez-Segoviano; Enrique Esquivel Garcia; Ma Martha Vela-Huerta; Fanny Guadalupe Lopez-Gomez
Journal:  Cureus       Date:  2018-11-20

Review 7.  Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.

Authors:  Karolina M Stepien; Andrew Bentley; Cliff Chen; M Wahab Dhemech; Edward Gee; Peter Orton; Catherine Pringle; Jonathan Rajan; Ankur Saxena; Govind Tol; Chaitanya Gadepalli
Journal:  Front Cardiovasc Med       Date:  2022-03-07
  7 in total

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