The pathophysiology of rett syndrome with a focus on breathing dysfunctions

Detalhes bibliográficos
Autor(a) principal: Ramirez, Jan-Marino
Data de Publicação: 2020
Outros Autores: Karlen-Amarante, Marlusa [UNESP], Wang, Jia-Der Ju, Bush, Nicholas E., Carroll, Michael S., Weese-Mayer, Debra E., Huff, Alyssa
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1152/physiol.00008.2020
http://hdl.handle.net/11449/206700
Resumo: Rett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by serious pathophysiology, including breathing and feeding dysfunctions, and alteration of cardiorespiratory coupling, a consequence of multiple interrelated disturbances in the genetic and homeostatic regulation of central and peripheral neuronal networks, redox state, and control of inflammation. Characteristic breath-holds, obstructive sleep apnea, and aerophagia result in intermittent hypoxia, which, combined with mitochondrial dysfunction, causes oxidative stress-an important driver of the clinical presentation of RTT.
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spelling The pathophysiology of rett syndrome with a focus on breathing dysfunctionsAutonomic dysregulationBreathingDysphagiaOxidative stressRett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by serious pathophysiology, including breathing and feeding dysfunctions, and alteration of cardiorespiratory coupling, a consequence of multiple interrelated disturbances in the genetic and homeostatic regulation of central and peripheral neuronal networks, redox state, and control of inflammation. Characteristic breath-holds, obstructive sleep apnea, and aerophagia result in intermittent hypoxia, which, combined with mitochondrial dysfunction, causes oxidative stress-an important driver of the clinical presentation of RTT.Center for Integrative Brain Research Seattle Children’s Research Institute University of Washington School of MedicineDepartments of Neurological Surgery and Pediatrics University of Washington School of MedicineDepartment of Physiology and Pathology School of Dentistry of Araraquara São Paulo State University (UNESP)Ann & Robert H. Lurie Children’s Hospital of ChicagoDepartment of Pediatrics Northwestern University Feinberg School of MedicineDivision of Autonomic Medicine Ann & Robert H. Lurie Children’s Hospital of ChicagoDepartment of Physiology and Pathology School of Dentistry of Araraquara São Paulo State University (UNESP)University of Washington School of MedicineUniversidade Estadual Paulista (Unesp)Ann & Robert H. Lurie Children’s Hospital of ChicagoNorthwestern University Feinberg School of MedicineRamirez, Jan-MarinoKarlen-Amarante, Marlusa [UNESP]Wang, Jia-Der JuBush, Nicholas E.Carroll, Michael S.Weese-Mayer, Debra E.Huff, Alyssa2021-06-25T10:36:44Z2021-06-25T10:36:44Z2020-11-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article375-390http://dx.doi.org/10.1152/physiol.00008.2020Physiology, v. 35, n. 6, p. 375-390, 2020.1548-92211548-9213http://hdl.handle.net/11449/20670010.1152/physiol.00008.20202-s2.0-85092886147Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengPhysiologyinfo:eu-repo/semantics/openAccess2021-10-23T10:18:34Zoai:repositorio.unesp.br:11449/206700Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T21:56:43.515571Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv The pathophysiology of rett syndrome with a focus on breathing dysfunctions
title The pathophysiology of rett syndrome with a focus on breathing dysfunctions
spellingShingle The pathophysiology of rett syndrome with a focus on breathing dysfunctions
Ramirez, Jan-Marino
Autonomic dysregulation
Breathing
Dysphagia
Oxidative stress
title_short The pathophysiology of rett syndrome with a focus on breathing dysfunctions
title_full The pathophysiology of rett syndrome with a focus on breathing dysfunctions
title_fullStr The pathophysiology of rett syndrome with a focus on breathing dysfunctions
title_full_unstemmed The pathophysiology of rett syndrome with a focus on breathing dysfunctions
title_sort The pathophysiology of rett syndrome with a focus on breathing dysfunctions
author Ramirez, Jan-Marino
author_facet Ramirez, Jan-Marino
Karlen-Amarante, Marlusa [UNESP]
Wang, Jia-Der Ju
Bush, Nicholas E.
Carroll, Michael S.
Weese-Mayer, Debra E.
Huff, Alyssa
author_role author
author2 Karlen-Amarante, Marlusa [UNESP]
Wang, Jia-Der Ju
Bush, Nicholas E.
Carroll, Michael S.
Weese-Mayer, Debra E.
Huff, Alyssa
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv University of Washington School of Medicine
Universidade Estadual Paulista (Unesp)
Ann & Robert H. Lurie Children’s Hospital of Chicago
Northwestern University Feinberg School of Medicine
dc.contributor.author.fl_str_mv Ramirez, Jan-Marino
Karlen-Amarante, Marlusa [UNESP]
Wang, Jia-Der Ju
Bush, Nicholas E.
Carroll, Michael S.
Weese-Mayer, Debra E.
Huff, Alyssa
dc.subject.por.fl_str_mv Autonomic dysregulation
Breathing
Dysphagia
Oxidative stress
topic Autonomic dysregulation
Breathing
Dysphagia
Oxidative stress
description Rett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by serious pathophysiology, including breathing and feeding dysfunctions, and alteration of cardiorespiratory coupling, a consequence of multiple interrelated disturbances in the genetic and homeostatic regulation of central and peripheral neuronal networks, redox state, and control of inflammation. Characteristic breath-holds, obstructive sleep apnea, and aerophagia result in intermittent hypoxia, which, combined with mitochondrial dysfunction, causes oxidative stress-an important driver of the clinical presentation of RTT.
publishDate 2020
dc.date.none.fl_str_mv 2020-11-01
2021-06-25T10:36:44Z
2021-06-25T10:36:44Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1152/physiol.00008.2020
Physiology, v. 35, n. 6, p. 375-390, 2020.
1548-9221
1548-9213
http://hdl.handle.net/11449/206700
10.1152/physiol.00008.2020
2-s2.0-85092886147
url http://dx.doi.org/10.1152/physiol.00008.2020
http://hdl.handle.net/11449/206700
identifier_str_mv Physiology, v. 35, n. 6, p. 375-390, 2020.
1548-9221
1548-9213
10.1152/physiol.00008.2020
2-s2.0-85092886147
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Physiology
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 375-390
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
_version_ 1808129376640827392

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