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dc.contributor.authorAkyol, Mehmet Umutpt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorMarinho, Diane Ruschelpt_BR
dc.contributor.authorScarpa, Mauriziopt_BR
dc.date.accessioned2019-10-25T03:47:37Zpt_BR
dc.date.issued2019pt_BR
dc.identifier.issn1750-1172pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/201033pt_BR
dc.description.abstractIntroduction: Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI. Methods: 26 international healthcare professionals from various disciplines, all with expertise in managing MPS VI, and three patient advocates formed the Steering Committee group (SC) and contributed to the development of this guidance. Members from six Patient Advocacy Groups (PAGs) acted as advisors and attended interviews to ensure representation of the patient perspective. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with expertise and experience managing patients with MPS VI and the manuscript has been evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers. Results: A total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions. Consensus was reached on all statements after two rounds of voting. The greatest challenges faced by patients as relayed by consultation with PAGs were deficits in endurance, dexterity, hearing, vision and respiratory function. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 represents the lowest quality and 7 represents the highest quality of guidance). Conclusion: This manuscript provides evidence- and consensus-based recommendations for the management of patients with MPS VI and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life. It is recognised that the guidance provided represents a point in time and further research is required to address current knowledge and evidence gaps.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofOrphanet journal of rare diseases. [London] : BioMed Central. Vol. 14 (2019), 118, 21 p.pt_BR
dc.rightsOpen Accessen
dc.subjectMucopolissacaridose VIpt_BR
dc.subjectMaroteaux-Lamy syndromeen
dc.subjectGuia de prática clínicapt_BR
dc.subjectMucopolysaccharidosisen
dc.subjectMPS VIen
dc.subjectAvaliação de sintomaspt_BR
dc.subjectMonitorização fisiológicapt_BR
dc.subjectManagement guidelinesen
dc.subjectGalsulfaseen
dc.subjectTranstornos do sono-vigíliapt_BR
dc.subjectTerapia de reposição de enzimaspt_BR
dc.subjectEnzyme replacement therapyen
dc.subjectERTen
dc.subjectTransplante de células-tronco hematopoéticaspt_BR
dc.subjectProcedimentos cirúrgicos operatóriospt_BR
dc.subjectHaematopoietic stem cell transplantationen
dc.subjectHSCTen
dc.subjectAnestésicospt_BR
dc.subjectSurgeryen
dc.subjectAnaestheticsen
dc.titleRecommendations for the management of MPS VI : systematic evidence- and consensus-based guidancept_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001104077pt_BR
dc.type.originEstrangeiropt_BR


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