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Doctoral Thesis
DOI
https://doi.org/10.11606/T.61.2018.tde-06102020-154750
Document
Author
Full name
Maria Cristina Crês
Institute/School/College
Knowledge Area
Date of Defense
Published
Bauru, 2018
Supervisor
Committee
Costa, Antonio Richieri da (President)
Antonini, Sonir Roberto Rauber
Bicudo, Lucilene Arilho Ribeiro
Tonello, Cristiano
Title in Portuguese
Fenótipo de Holoprosencefalia minor: investigação por imagem do Sistema Nervoso Central
Keywords in Portuguese
Encéfalo
Hipófise Neuroimagem
Holoprosencefalia
Prosencéfalo
Abstract in Portuguese
Neste estudo, foram reavaliados exames de neuroimagens de indivíduos com fenótipo de Holoprosencefalia (HPE) minor, buscando identificar alterações no desenvolvimento embriológico do prosencéfalo. Os achados fenotípicos e as análises genéticas previamente realizadas foram obtidas das anotações em prontuários. Foram selecionados 31 indivíduos, atendidos no Hospital de Reabilitação de Anomalias Craniofaciais, da Universidade de São Paulo (HRACUSP), Bauru / SP, Brasil, com fenótipo de HPE minor, diagnosticados por geneticistas clínicos, e sem as alterações clássicas da HPE em exames de ressonância magnética do encéfalo. As neuroimagens foram avaliadas por dois experientes radiologistas, seguindo um protocolo previamente estabelecido. A concordância entre os avaliadores foi verificada pelo Coeficiente Kappa (significância p<0,05). As alterações nos exames de neuroimagens, os achados clínicos e as alterações genéticas foram correlacionados e representados por meio de seus percentuais. Este estudo sugere que indivíduos com características faciais de HPE minor podem apresentar pequenas alterações encefálicas, com maior comprometimento nas estruturas originárias do telencéfalo e do diencéfalo. As alterações hipofisárias foram as mais frequentes e, em alguns casos, foram as únicas malformações encefálicas presentes. O Corpo Caloso, o Septo Pelúcido, os Núcleos da Base e os Ventrículos Laterais, também podem estar acometidos. A hipoplasia da face média, a fissura labiopalatina, a microcefalia e as alterações da Hipófise podem ser resultantes de defeitos na migração e/ou diferenciação de células oriundas da crista neural, que dão origem ao Processo Frontonasal e aos Processos Maxilares, sem alterarem a padronização do prosencéfalo. A variedade na expressão clínica sugere que a interação de fatores, ainda não identificados, contribua para o fenótipo final
Title in English
Holoprosencephaly minor phenotype: investigation by Central Nervous System
Keywords in English
Brain
Holoprosencephaly
Neuroimaging
Pituitary
Prosencephalon
Abstract in English
In this study, a retrospective review of the neuroimaging records of individuals with Holoprosencephaly (HPE) minor phenotype was performed, looking for changes in the embryological development of the forebrain. The phenotypic findings and genetic analyzes, previously performed, were obtained from the annotations in medical records. Thirty-one individuals were selected from Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP), Bauru, São Paulo, Brazil, with HPE minor phenotype, diagnosed by clinical geneticists, without typical characteristic malformations of HPE in magnetic resonance imaging of the brain. The neuroimaging was analyzed by two experienced radiologists, following a previously established protocol. The agreement between the two analyses was determined by Kappa coefficient (significance p<0.05). The abnormalities in the neuroimaging, the clinical findings and the genetic alterations were correlated with abnormalities found in the neuroimaging, and they were represented by their percentages. This study suggests that individuals with facial features of HPE minor may present small encephalic abnormalities, with a greater compromise in the structures originating from the telencephalon and diencephalon. Pituitary abnormalities were the most frequent and, in some cases, they were the only malformations present. The Corpus Callosum, the Septum Pellucidum, the Basal Ganglia and the Lateral Ventricles may also be affected. Midfacial Hypoplasia, cleft lip end/or palate, microcephaly and abnormalities of the pituitary may result from defects in the migration and/or differentiation of neural crest cells, which they give rise to the Frontonasal and Maxillary Prominence, without alteration in the patterning of the forebrain. The variety in clinical expression suggests that the interaction of factors, still not identified, contribute to the final phenotype
 
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Publishing Date
2020-10-14
 
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