Bruno Corte Bueno de Oliveira, Isadora Letícia Ribeiro Melo, Thyago Henrique Neves da Silva Filho, R. Diniz, Suelen Paula Gobatto, Sara Maria dos Santos Oliveira
{"title":"HEMOCROMATOSE HEREDITÁRIA","authors":"Bruno Corte Bueno de Oliveira, Isadora Letícia Ribeiro Melo, Thyago Henrique Neves da Silva Filho, R. Diniz, Suelen Paula Gobatto, Sara Maria dos Santos Oliveira","doi":"10.22533/at.ed.06121190716","DOIUrl":"https://doi.org/10.22533/at.ed.06121190716","url":null,"abstract":"","PeriodicalId":434347,"journal":{"name":"Genética médica aplicada à prática clínica","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131341791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Augusto Coli Junqueira Villela Fernandes, Iago Ribeiro Lemes, Gabriel Franco Bastos, Thyago Henrique Neves da Silva Filho, Flavyo Augustho Moraes Leite
{"title":"SÍNDROME DE TURNER","authors":"Augusto Coli Junqueira Villela Fernandes, Iago Ribeiro Lemes, Gabriel Franco Bastos, Thyago Henrique Neves da Silva Filho, Flavyo Augustho Moraes Leite","doi":"10.22533/AT.ED.06121190727","DOIUrl":"https://doi.org/10.22533/AT.ED.06121190727","url":null,"abstract":"O Síndrome de Turner foi descrito pela primeiravez em 1938 por Henry Turnere tem uma incidência de 1:3000 mulheres nascidas. Os autores apresentam um caso raro de uma mulher de 48 anos com Síndrome de Turner, cujo cariótipo era (46, X, i (Xq)), tardiamente diagnosticado, associado a enfisema pulmonar e hipertensão pulmonar. O caso e os métodos de estudo são apresentados. Alguns aspectos deste caso, nomeadamente a hipótese do enfisema pulmonar se relacionar com Síndrome de Turner, são discutidos.","PeriodicalId":434347,"journal":{"name":"Genética médica aplicada à prática clínica","volume":"376 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115970719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Wesley Ramires de Souza Liberato, Luiza D’Ottaviano Cobos, Thyago Henrique Neves da Silva Filho, R. Diniz, Igor Candido Viana Gonçalves
{"title":"DOENÇA DE HUNTINGTON","authors":"Wesley Ramires de Souza Liberato, Luiza D’Ottaviano Cobos, Thyago Henrique Neves da Silva Filho, R. Diniz, Igor Candido Viana Gonçalves","doi":"10.22533/at.ed.06121190710","DOIUrl":"https://doi.org/10.22533/at.ed.06121190710","url":null,"abstract":"","PeriodicalId":434347,"journal":{"name":"Genética médica aplicada à prática clínica","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124892319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Wesley Ramires de Souza Liberato, André Marcilio Rodrigues, Thyago Henrique Neves da Silva Filho, Renata Silva Diniz, Brunna Camargo dos Santos, Guilherme dos Santos Fontes Macedo
{"title":"SINDROME DO CROMOSSOMO X FRÁGIL","authors":"Wesley Ramires de Souza Liberato, André Marcilio Rodrigues, Thyago Henrique Neves da Silva Filho, Renata Silva Diniz, Brunna Camargo dos Santos, Guilherme dos Santos Fontes Macedo","doi":"10.22533/AT.ED.06121190728","DOIUrl":"https://doi.org/10.22533/AT.ED.06121190728","url":null,"abstract":"","PeriodicalId":434347,"journal":{"name":"Genética médica aplicada à prática clínica","volume":"90 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134297821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Isabella Miranda Esteves Orsi, Maria Eduarda Rocha Machado Fonseca, Gabrielli Naiara Vieira Miranda, Reigson Alves Dias, Thyago Henrique Neves da Silva Filho, Beatriz M. Rocha
{"title":"CRIPTORQUIDIA","authors":"Isabella Miranda Esteves Orsi, Maria Eduarda Rocha Machado Fonseca, Gabrielli Naiara Vieira Miranda, Reigson Alves Dias, Thyago Henrique Neves da Silva Filho, Beatriz M. Rocha","doi":"10.22533/at.ed.0612119074","DOIUrl":"https://doi.org/10.22533/at.ed.0612119074","url":null,"abstract":"Etimológicamente “testículo oculto”, la criptorquidia se define como la ausencia de al menos uno de los testículos en el escroto, y puede ser unilateral (85% de los casos, siendo el derecho el más frecuentemente ausente –hasta un 70% de los casos unilaterales–), cuando solo falta uno, o bilateral, cuando faltan ambos. La criptorquidia es la endocrinopatía más frecuente y la malformación congénita más frecuente de los genitales externos masculinos. Aparece en un 3-9% de los varones nacidos a término, y en más del 30% de los pretérminos, estando en relación directa con la edad gestacional.","PeriodicalId":434347,"journal":{"name":"Genética médica aplicada à prática clínica","volume":"68 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125022930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Isabella Miranda Esteves Orsi, Maria Eduarda Rocha Machado Fonseca, Thyago Henrique Neves da Silva Filho, Renata Silva Diniz, Márlon Gomes de Resende
{"title":"VITILIGO","authors":"Isabella Miranda Esteves Orsi, Maria Eduarda Rocha Machado Fonseca, Thyago Henrique Neves da Silva Filho, Renata Silva Diniz, Márlon Gomes de Resende","doi":"10.22533/at.ed.06121190717","DOIUrl":"https://doi.org/10.22533/at.ed.06121190717","url":null,"abstract":"","PeriodicalId":434347,"journal":{"name":"Genética médica aplicada à prática clínica","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132761643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lucas Sardinha Barreto, Victor Leone de Andrade, Letícia Lima Santos, Thyago Henrique Neves da Silva Filho, Reigson Alves Dias, Ana Carla de Oliveira Domingos Silva
{"title":"ANEMIA DE FANCONI","authors":"Lucas Sardinha Barreto, Victor Leone de Andrade, Letícia Lima Santos, Thyago Henrique Neves da Silva Filho, Reigson Alves Dias, Ana Carla de Oliveira Domingos Silva","doi":"10.22533/AT.ED.0612119071","DOIUrl":"https://doi.org/10.22533/AT.ED.0612119071","url":null,"abstract":"Introduction: There is a paucity of research on otologic and audiologic abnormalities in Fanconi Anemia (FA). Since these alterations are not entirely characterized the main aim of this study is to describe the otologic and audiologic alterations in children with FA referred to our pediatric hearing loss consultation as part of the clinical evaluation protocol established. Methods: The medical records of eleven patients were reviewed and patient demographics, clinical features associated with FA and otologic and audiologic findings were analyzed. Results: Eleven patients, aged between one month and eight years old at diagnosis, were analyzed. Seven out of the eleven cases had hearing loss. Acta Otorrinolaringológica Gallega","PeriodicalId":434347,"journal":{"name":"Genética médica aplicada à prática clínica","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115471355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rafaela Alves Pelizzaro, Ray Braga Romero, Daniel Francisco Pereira de Assis, Thyago Henrique Neves da Silva Filho, Reigson Alves Dias
{"title":"DOENÇA DE CROHN","authors":"Rafaela Alves Pelizzaro, Ray Braga Romero, Daniel Francisco Pereira de Assis, Thyago Henrique Neves da Silva Filho, Reigson Alves Dias","doi":"10.22533/at.ed.0612119079","DOIUrl":"https://doi.org/10.22533/at.ed.0612119079","url":null,"abstract":"","PeriodicalId":434347,"journal":{"name":"Genética médica aplicada à prática clínica","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126098788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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