Neurodevelopment disorders related to the GRIN2B gene: Case report
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Research, Society and Development |
Texto Completo: | https://rsdjournal.org/index.php/rsd/article/view/17566 |
Resumo: | Objective: To understand the main neurodevelopmental disorders related to alterations in the GRIN2B gene. Methodology: A descriptive and documentary case report was carried out. Data collection was carried out through specific tools such as interviews with a structured questionnaire, exams and forms that contained information on research identification; history of the disease under study; symptomatic interrogation; pathological family history; general physical examination and directed to organs and systems; diagnostic hypotheses; medical procedures already performed (exams and pharmacological and non-pharmacological treatment). Results: It was found that the patient in the case reported has Autosomal Dominant Intellectual Deficiency 6 (GRIN2B-Related Neurodevelopmental Disorder), based on their clinical characteristics and identification of the pathogenic variant in heterozygosity on chromosome 12 of the GRIN2B gene, excluding the possibility from other causes. Conclusion: The importance of GRIN2B in the development of the human brain is highlighted, allied to the understanding of the main neurodevelopmental disorders related to alterations in the GRIN2B gene, being of high relevance for the diagnosis and prognosis of these patients by contributing to the training of professionals capable of performing an early diagnosis, with knowledge of the clinical characteristics of the genetic alteration, immediate treatment measures, thus improving the quality of life and prognosis of these patients. |
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Neurodevelopment disorders related to the GRIN2B gene: Case reportTrastornos del neurodearrollo relacionado con el gen GRIN2B: Reporte de casoDistúrbios do neurodesenvolvimento relacionados ao gene GRIN2B: Relato de casoGRIN2B geneNeurodevelopmental DisordersMutationNervous system.gen GRIN2BTrastornos del neurodesarrolloMutaciónSistema nervioso.Gene GRIN2BDistúrbios do NeurodesenvolvimentoMutaçãoSistema nervoso.Objective: To understand the main neurodevelopmental disorders related to alterations in the GRIN2B gene. Methodology: A descriptive and documentary case report was carried out. Data collection was carried out through specific tools such as interviews with a structured questionnaire, exams and forms that contained information on research identification; history of the disease under study; symptomatic interrogation; pathological family history; general physical examination and directed to organs and systems; diagnostic hypotheses; medical procedures already performed (exams and pharmacological and non-pharmacological treatment). Results: It was found that the patient in the case reported has Autosomal Dominant Intellectual Deficiency 6 (GRIN2B-Related Neurodevelopmental Disorder), based on their clinical characteristics and identification of the pathogenic variant in heterozygosity on chromosome 12 of the GRIN2B gene, excluding the possibility from other causes. Conclusion: The importance of GRIN2B in the development of the human brain is highlighted, allied to the understanding of the main neurodevelopmental disorders related to alterations in the GRIN2B gene, being of high relevance for the diagnosis and prognosis of these patients by contributing to the training of professionals capable of performing an early diagnosis, with knowledge of the clinical characteristics of the genetic alteration, immediate treatment measures, thus improving the quality of life and prognosis of these patients.Objetivo: Comprender los principales trastornos del neurodesarrollo relacionados con alteraciones en el gen GRIN2B. Metodología: Se realizó un reporte de caso descriptivo y documental. La recolección de datos se realizó a través de herramientas específicas como entrevistas con cuestionario estructurado, exámenes y formularios que contenían información sobre identificación de la investigación; historia de la enfermedad en estudio; interrogatorio sintomático; antecedentes familiares patológicos; examen físico general y dirigido a órganos y sistemas; Suposiciones Diagnósticas; procedimientos médicos ya realizados (exámenes y tratamientos farmacológicos y no farmacológicos). Resultados: Se encontró que el paciente del caso reportado presenta Deficiencia Intelectual Autosómica Dominante 6 (Trastorno del Neurodesarrollo Relacionado con GRIN2B), en base a sus características clínicas e identificación de la variante patogénica en heterocigosidad en el cromosoma 12 del gen GRIN2B, excluyendo la posibilidad por otras causas. Conclusión: Se destaca la importancia de GRIN2B en el desarrollo del cerebro humano, aliado a la comprensión de los principales trastornos del neurodesarrollo relacionados con alteraciones en el gen GRIN2B, siendo de alta relevancia para el diagnóstico y pronóstico de estos pacientes al contribuir a la formación de profesionales capaces de realizar un diagnóstico precoz, con conocimiento de las características clínicas de la alteración genética, medidas de tratamiento inmediato, mejorando así la calidad de vida y el pronóstico de estos pacientes.Objetivo: Compreender os principais distúrbios do neurodesenvolvimento relacionados às alterações no gene GRIN2B. Metodologia: Foi realizado um relato de caso de caráter descritivo e documental. A coleta de dados foi realizada através de ferramentas específicas como entrevista com questionário estruturado, exames e formulários que continham informações sobre identificação da pesquisa; história da doença em estudo; interrogatório sintomatológico; antecedentes familiares patológicos; exame físico geral e direcionado aos órgãos e sistemas; hipóteses diagnósticas; condutas médicas já realizadas (exames e tratamento farmacológico e não farmacológico). Resultados: Constatou-se que o paciente do caso relatado é portador de Deficiência Intelectual Autossômica Dominante 6 (Distúrbio do Neurodesenvolvimento Relacionado a GRIN2B), com base nas suas características clínicas e identificação da variante patogênica em heterozigose no cromossomo 12 do gene GRIN2B excluindo a possibilidade de outras causas. Conclusão: Ressalta-se a importância do GRIN2B no desenvolvimento do cérebro humano aliado a compreensão dos principais distúrbios do neurodesenvolvimento relacionados à alterações no gene GRIN2B, sendo de relevância elevada para o diagnóstico e prognóstico desses pacientes ao contribuir para a formação de profissionais capazes de realizar um diagnóstico precoce, com conhecimento das características clínicas da alteração genética, medidas de tratamento imediato, melhorando, assim, a qualidade de vida e o prognóstico destes pacientes.Research, Society and Development2021-07-17info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/1756610.33448/rsd-v10i8.17566Research, Society and Development; Vol. 10 No. 8; e52610817566Research, Society and Development; Vol. 10 Núm. 8; e52610817566Research, Society and Development; v. 10 n. 8; e526108175662525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIporhttps://rsdjournal.org/index.php/rsd/article/view/17566/15777Copyright (c) 2021 Damiana Gerleide Brito Valério; Raquel Bezerra de Sá de Sousa Nogueira; Maria Cecília de Pontes Jordão Gayoso; Tiago Bezerra de Sá de Sousa Nogueira; Alanna Michely Batista de Moraishttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessValério, Damiana Gerleide Brito Nogueira, Raquel Bezerra de Sá de Sousa Gayoso, Maria Cecília de Pontes Jordão Nogueira, Tiago Bezerra de Sá de Sousa Morais, Alanna Michely Batista de2021-08-21T18:46:59Zoai:ojs.pkp.sfu.ca:article/17566Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:37:53.038495Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false |
dc.title.none.fl_str_mv |
Neurodevelopment disorders related to the GRIN2B gene: Case report Trastornos del neurodearrollo relacionado con el gen GRIN2B: Reporte de caso Distúrbios do neurodesenvolvimento relacionados ao gene GRIN2B: Relato de caso |
title |
Neurodevelopment disorders related to the GRIN2B gene: Case report |
spellingShingle |
Neurodevelopment disorders related to the GRIN2B gene: Case report Valério, Damiana Gerleide Brito GRIN2B gene Neurodevelopmental Disorders Mutation Nervous system. gen GRIN2B Trastornos del neurodesarrollo Mutación Sistema nervioso. Gene GRIN2B Distúrbios do Neurodesenvolvimento Mutação Sistema nervoso. |
title_short |
Neurodevelopment disorders related to the GRIN2B gene: Case report |
title_full |
Neurodevelopment disorders related to the GRIN2B gene: Case report |
title_fullStr |
Neurodevelopment disorders related to the GRIN2B gene: Case report |
title_full_unstemmed |
Neurodevelopment disorders related to the GRIN2B gene: Case report |
title_sort |
Neurodevelopment disorders related to the GRIN2B gene: Case report |
author |
Valério, Damiana Gerleide Brito |
author_facet |
Valério, Damiana Gerleide Brito Nogueira, Raquel Bezerra de Sá de Sousa Gayoso, Maria Cecília de Pontes Jordão Nogueira, Tiago Bezerra de Sá de Sousa Morais, Alanna Michely Batista de |
author_role |
author |
author2 |
Nogueira, Raquel Bezerra de Sá de Sousa Gayoso, Maria Cecília de Pontes Jordão Nogueira, Tiago Bezerra de Sá de Sousa Morais, Alanna Michely Batista de |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Valério, Damiana Gerleide Brito Nogueira, Raquel Bezerra de Sá de Sousa Gayoso, Maria Cecília de Pontes Jordão Nogueira, Tiago Bezerra de Sá de Sousa Morais, Alanna Michely Batista de |
dc.subject.por.fl_str_mv |
GRIN2B gene Neurodevelopmental Disorders Mutation Nervous system. gen GRIN2B Trastornos del neurodesarrollo Mutación Sistema nervioso. Gene GRIN2B Distúrbios do Neurodesenvolvimento Mutação Sistema nervoso. |
topic |
GRIN2B gene Neurodevelopmental Disorders Mutation Nervous system. gen GRIN2B Trastornos del neurodesarrollo Mutación Sistema nervioso. Gene GRIN2B Distúrbios do Neurodesenvolvimento Mutação Sistema nervoso. |
description |
Objective: To understand the main neurodevelopmental disorders related to alterations in the GRIN2B gene. Methodology: A descriptive and documentary case report was carried out. Data collection was carried out through specific tools such as interviews with a structured questionnaire, exams and forms that contained information on research identification; history of the disease under study; symptomatic interrogation; pathological family history; general physical examination and directed to organs and systems; diagnostic hypotheses; medical procedures already performed (exams and pharmacological and non-pharmacological treatment). Results: It was found that the patient in the case reported has Autosomal Dominant Intellectual Deficiency 6 (GRIN2B-Related Neurodevelopmental Disorder), based on their clinical characteristics and identification of the pathogenic variant in heterozygosity on chromosome 12 of the GRIN2B gene, excluding the possibility from other causes. Conclusion: The importance of GRIN2B in the development of the human brain is highlighted, allied to the understanding of the main neurodevelopmental disorders related to alterations in the GRIN2B gene, being of high relevance for the diagnosis and prognosis of these patients by contributing to the training of professionals capable of performing an early diagnosis, with knowledge of the clinical characteristics of the genetic alteration, immediate treatment measures, thus improving the quality of life and prognosis of these patients. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-07-17 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://rsdjournal.org/index.php/rsd/article/view/17566 10.33448/rsd-v10i8.17566 |
url |
https://rsdjournal.org/index.php/rsd/article/view/17566 |
identifier_str_mv |
10.33448/rsd-v10i8.17566 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://rsdjournal.org/index.php/rsd/article/view/17566/15777 |
dc.rights.driver.fl_str_mv |
https://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Research, Society and Development |
publisher.none.fl_str_mv |
Research, Society and Development |
dc.source.none.fl_str_mv |
Research, Society and Development; Vol. 10 No. 8; e52610817566 Research, Society and Development; Vol. 10 Núm. 8; e52610817566 Research, Society and Development; v. 10 n. 8; e52610817566 2525-3409 reponame:Research, Society and Development instname:Universidade Federal de Itajubá (UNIFEI) instacron:UNIFEI |
instname_str |
Universidade Federal de Itajubá (UNIFEI) |
instacron_str |
UNIFEI |
institution |
UNIFEI |
reponame_str |
Research, Society and Development |
collection |
Research, Society and Development |
repository.name.fl_str_mv |
Research, Society and Development - Universidade Federal de Itajubá (UNIFEI) |
repository.mail.fl_str_mv |
rsd.articles@gmail.com |
_version_ |
1797052818470731776 |