Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFMG |
Texto Completo: | https://doi.org/10.1038/s41598-021-87058-5 http://hdl.handle.net/1843/56599 https://orcid.org/0000-0002-0115-2001 https://orcid.org/0000-0003-2557-8813 https://orcid.org/0000-0001-9459-2294 |
Resumo: | Some studies report neurological lesions in patients with genetic skeletal disorders (GSDs). However, none of them describe the frequency of neurological lesions in a large sample of patients or investigate the associations between clinical and/or radiological central nervous system (CNS) injury and clinical, anthropometric and imaging parameters. The project was approved by the institution’s ethics committee (CAAE 49433215.5.0000.0022). In this cross-sectional observational analysis study, 272 patients aged four or more years with clinically and radiologically confrmed GSDs were prospectively included. Genetic testing confrmed the diagnosis in the FGFR3 chondrodysplasias group. All patients underwent blinded and independent clinical, anthropometric and neuroaxis imaging evaluations. Information on the presence of headache, neuropsychomotor development (NPMD), low back pain, joint deformity, ligament laxity and lower limb discrepancy was collected. Imaging abnormalities of the axial skeleton and CNS were investigated by whole spine digital radiography, craniocervical junction CT and brain and spine MRI. The diagnostic criteria for CNS injury were abnormal clinical and/or radiographic examination of the CNS. Brain injury included malacia, encephalopathies and malformation. Spinal cord injury included malacia, hydrosyringomyelia and spinal cord injury without radiographic abnormalities. CNS injury was diagnosed in more than 25% of GSD patients. Spinal cord injury was found in 21.7% of patients, and brain injury was found in 5.9%. The presence of low back pain, os odontoideum and abnormal NPMD remained independently associated with CNS injury in the multivariable analysis. Early identifcation of these abnormalities may have some role in preventing compressive CNS injury, which is a priority in GSD patients. |
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2023-07-18T17:02:01Z2023-07-18T17:02:01Z2021-05-3111https://doi.org/10.1038/s41598-021-87058-52045-2322http://hdl.handle.net/1843/56599https://orcid.org/0000-0002-0115-2001https://orcid.org/0000-0003-2557-8813https://orcid.org/0000-0001-9459-2294Some studies report neurological lesions in patients with genetic skeletal disorders (GSDs). However, none of them describe the frequency of neurological lesions in a large sample of patients or investigate the associations between clinical and/or radiological central nervous system (CNS) injury and clinical, anthropometric and imaging parameters. The project was approved by the institution’s ethics committee (CAAE 49433215.5.0000.0022). In this cross-sectional observational analysis study, 272 patients aged four or more years with clinically and radiologically confrmed GSDs were prospectively included. Genetic testing confrmed the diagnosis in the FGFR3 chondrodysplasias group. All patients underwent blinded and independent clinical, anthropometric and neuroaxis imaging evaluations. Information on the presence of headache, neuropsychomotor development (NPMD), low back pain, joint deformity, ligament laxity and lower limb discrepancy was collected. Imaging abnormalities of the axial skeleton and CNS were investigated by whole spine digital radiography, craniocervical junction CT and brain and spine MRI. The diagnostic criteria for CNS injury were abnormal clinical and/or radiographic examination of the CNS. Brain injury included malacia, encephalopathies and malformation. Spinal cord injury included malacia, hydrosyringomyelia and spinal cord injury without radiographic abnormalities. CNS injury was diagnosed in more than 25% of GSD patients. Spinal cord injury was found in 21.7% of patients, and brain injury was found in 5.9%. The presence of low back pain, os odontoideum and abnormal NPMD remained independently associated with CNS injury in the multivariable analysis. Early identifcation of these abnormalities may have some role in preventing compressive CNS injury, which is a priority in GSD patients.Alguns estudos relatam lesões neurológicas em pacientes com distúrbios esqueléticos genéticos (GSDs). No entanto, nenhum deles descreve a frequência de lesões neurológicas em uma grande amostra de pacientes ou investiga as associações entre lesões clínicas e/ou radiológicas do sistema nervoso central (SNC) e parâmetros clínicos, antropométricos e de imagem. O projeto foi aprovado pelo comitê de ética da instituição (CAAE 49433215.5.0000.0022). Neste estudo de análise observacional transversal, 272 pacientes com idade igual ou superior a quatro anos com GSDs confirmadas clínica e radiologicamente foram incluídos prospectivamente. O teste genético confirmou o diagnóstico no grupo de condrodisplasias FGFR3. Todos os pacientes foram submetidos a avaliações clínicas, antropométricas e neuroaxiais cegas e independentes. Foram coletadas informações sobre a presença de cefaléia, desenvolvimento neuropsicomotor (DNPM), lombalgia, deformidade articular, frouxidão ligamentar e discrepância de membros inferiores. As anormalidades de imagem do esqueleto axial e do SNC foram investigadas por radiografia digital de toda a coluna, TC da junção craniocervical e RM do cérebro e da coluna. Os critérios diagnósticos para lesão do SNC foram exame clínico e/ou radiográfico anormal do SNC. A lesão cerebral incluiu malácia, encefalopatias e malformações. Lesão da medula espinhal incluiu malácia, hidrosiringomielia e lesão da medula espinhal sem anormalidades radiográficas. Lesão do SNC foi diagnosticada em mais de 25% dos pacientes com GSD. Lesão medular foi encontrada em 21,7% dos pacientes e lesão cerebral em 5,9%. A presença de lombalgia, os odontoideum e DNPM anormal permaneceram independentemente associados à lesão do SNC na análise multivariada. A identificação precoce dessas anormalidades pode ter algum papel na prevenção de lesão compressiva do SNC, que é uma prioridade em pacientes com GSD.engUniversidade Federal de Minas GeraisUFMGBrasilMED - DEPARTAMENTO DE CLÍNICA MÉDICAScientific ReportsDoenças do sistema nervosoSistema nervoso centralDoenças genéticas inatasNeuroimagemGenetic skeletal disordersNeurologic injuryImaging methodsIdentification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disordersIdentificação de casos clínicos e preditores radiográficos de lesão do sistema nervoso central em doenças esqueléticas genéticasinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://www.nature.com/articles/s41598-021-87058-5Antônio Lopes da Cunha JúniorAna Paula Silva ChampsCarla Meirelles de MelloMônica de Magalhães Machado NavarroFrederico José Carvalho GodinhoCássia Maria Barduco CarvalhoTeresa Cristina de Abreu Ferrariapplication/pdfinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFMGinstname:Universidade Federal de Minas Gerais (UFMG)instacron:UFMGORIGINALIdentifcation of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders.pdfIdentifcation of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders.pdfapplication/pdf304610https://repositorio.ufmg.br/bitstream/1843/56599/2/Identifcation%20of%20clinical%20and%20radiographic%20predictors%20of%20central%20nervous%20system%20injury%20in%20genetic%20skeletal%20disorders.pdf167b108c2a47e3bce0781ae3209b476eMD52LICENSELicense.txtLicense.txttext/plain; charset=utf-82042https://repositorio.ufmg.br/bitstream/1843/56599/1/License.txtfa505098d172de0bc8864fc1287ffe22MD511843/565992023-07-18 14:02:01.564oai:repositorio.ufmg.br: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Repositório de PublicaçõesPUBhttps://repositorio.ufmg.br/oaiopendoar:2023-07-18T17:02:01Repositório Institucional da UFMG - Universidade Federal de Minas Gerais (UFMG)false |
dc.title.pt_BR.fl_str_mv |
Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders |
dc.title.alternative.pt_BR.fl_str_mv |
Identificação de casos clínicos e preditores radiográficos de lesão do sistema nervoso central em doenças esqueléticas genéticas |
title |
Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders |
spellingShingle |
Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders Antônio Lopes da Cunha Júnior Genetic skeletal disorders Neurologic injury Imaging methods Doenças do sistema nervoso Sistema nervoso central Doenças genéticas inatas Neuroimagem |
title_short |
Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders |
title_full |
Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders |
title_fullStr |
Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders |
title_full_unstemmed |
Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders |
title_sort |
Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders |
author |
Antônio Lopes da Cunha Júnior |
author_facet |
Antônio Lopes da Cunha Júnior Ana Paula Silva Champs Carla Meirelles de Mello Mônica de Magalhães Machado Navarro Frederico José Carvalho Godinho Cássia Maria Barduco Carvalho Teresa Cristina de Abreu Ferrari |
author_role |
author |
author2 |
Ana Paula Silva Champs Carla Meirelles de Mello Mônica de Magalhães Machado Navarro Frederico José Carvalho Godinho Cássia Maria Barduco Carvalho Teresa Cristina de Abreu Ferrari |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Antônio Lopes da Cunha Júnior Ana Paula Silva Champs Carla Meirelles de Mello Mônica de Magalhães Machado Navarro Frederico José Carvalho Godinho Cássia Maria Barduco Carvalho Teresa Cristina de Abreu Ferrari |
dc.subject.por.fl_str_mv |
Genetic skeletal disorders Neurologic injury Imaging methods |
topic |
Genetic skeletal disorders Neurologic injury Imaging methods Doenças do sistema nervoso Sistema nervoso central Doenças genéticas inatas Neuroimagem |
dc.subject.other.pt_BR.fl_str_mv |
Doenças do sistema nervoso Sistema nervoso central Doenças genéticas inatas Neuroimagem |
description |
Some studies report neurological lesions in patients with genetic skeletal disorders (GSDs). However, none of them describe the frequency of neurological lesions in a large sample of patients or investigate the associations between clinical and/or radiological central nervous system (CNS) injury and clinical, anthropometric and imaging parameters. The project was approved by the institution’s ethics committee (CAAE 49433215.5.0000.0022). In this cross-sectional observational analysis study, 272 patients aged four or more years with clinically and radiologically confrmed GSDs were prospectively included. Genetic testing confrmed the diagnosis in the FGFR3 chondrodysplasias group. All patients underwent blinded and independent clinical, anthropometric and neuroaxis imaging evaluations. Information on the presence of headache, neuropsychomotor development (NPMD), low back pain, joint deformity, ligament laxity and lower limb discrepancy was collected. Imaging abnormalities of the axial skeleton and CNS were investigated by whole spine digital radiography, craniocervical junction CT and brain and spine MRI. The diagnostic criteria for CNS injury were abnormal clinical and/or radiographic examination of the CNS. Brain injury included malacia, encephalopathies and malformation. Spinal cord injury included malacia, hydrosyringomyelia and spinal cord injury without radiographic abnormalities. CNS injury was diagnosed in more than 25% of GSD patients. Spinal cord injury was found in 21.7% of patients, and brain injury was found in 5.9%. The presence of low back pain, os odontoideum and abnormal NPMD remained independently associated with CNS injury in the multivariable analysis. Early identifcation of these abnormalities may have some role in preventing compressive CNS injury, which is a priority in GSD patients. |
publishDate |
2021 |
dc.date.issued.fl_str_mv |
2021-05-31 |
dc.date.accessioned.fl_str_mv |
2023-07-18T17:02:01Z |
dc.date.available.fl_str_mv |
2023-07-18T17:02:01Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/1843/56599 |
dc.identifier.doi.pt_BR.fl_str_mv |
https://doi.org/10.1038/s41598-021-87058-5 |
dc.identifier.issn.pt_BR.fl_str_mv |
2045-2322 |
dc.identifier.orcid.pt_BR.fl_str_mv |
https://orcid.org/0000-0002-0115-2001 https://orcid.org/0000-0003-2557-8813 https://orcid.org/0000-0001-9459-2294 |
url |
https://doi.org/10.1038/s41598-021-87058-5 http://hdl.handle.net/1843/56599 https://orcid.org/0000-0002-0115-2001 https://orcid.org/0000-0003-2557-8813 https://orcid.org/0000-0001-9459-2294 |
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2045-2322 |
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eng |
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eng |
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Scientific Reports |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Universidade Federal de Minas Gerais |
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UFMG |
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Brasil |
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MED - DEPARTAMENTO DE CLÍNICA MÉDICA |
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Universidade Federal de Minas Gerais |
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