Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D Coletta, Hercílio Martelli-Júnior
{"title":"巴西口腔医学/病理学从业者对罕见遗传病的知识和态度：一项横断面研究。","authors":"Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D Coletta, Hercílio Martelli-Júnior","doi":"10.3389/froh.2025.1573355","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.</p><p><strong>Methods: </strong>A cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a pre-structured online formulary. Statistical analyses were performed using Statistical Package for the Social Sciences (SPSS®). The questionnaire was sent to 273 specialists, members of the Brazilian Society of Stomatology and Oral Pathology (SOBEP).</p><p><strong>Results: </strong>A total of 58 (21.2%) OM/OP specialists responded to the questionnaire. Most of the participants (67.2%) have declared attending theoretical courses on diagnosing and genetic testing for genetic diseases. Furthermore, 79.3% of participants reported that there are barriers to integration between the fields of Medical Genetics and OM/OP. Longer time working as a PhD was associated with knowledge of lesions predictive of genetic diseases (<i>P</i> < 0.05). Dental abnormalities and the presence of tumors, along with Gorlin-Goltz (nevoid basal cell carcinoma syndrome) and Gardner syndromes and neurofibromatosis, were the most frequently reported conditions and recalled by the responders of the survey.</p><p><strong>Conclusions: </strong>There is limited integration between Medical Genetics and OM/OP. However, there is considerable knowledge about oral manifestations as indicators of genetic diseases among OM/OP experts.</p>","PeriodicalId":94016,"journal":{"name":"Frontiers in oral health","volume":"6 ","pages":"1573355"},"PeriodicalIF":3.1000,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12277291/pdf/","citationCount":"0","resultStr":"{\"title\":\"Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study.\",\"authors\":\"Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D Coletta, Hercílio Martelli-Júnior\",\"doi\":\"10.3389/froh.2025.1573355\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>This study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.</p><p><strong>Methods: </strong>A cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a pre-structured online formulary. Statistical analyses were performed using Statistical Package for the Social Sciences (SPSS®). The questionnaire was sent to 273 specialists, members of the Brazilian Society of Stomatology and Oral Pathology (SOBEP).</p><p><strong>Results: </strong>A total of 58 (21.2%) OM/OP specialists responded to the questionnaire. Most of the participants (67.2%) have declared attending theoretical courses on diagnosing and genetic testing for genetic diseases. Furthermore, 79.3% of participants reported that there are barriers to integration between the fields of Medical Genetics and OM/OP. Longer time working as a PhD was associated with knowledge of lesions predictive of genetic diseases (<i>P</i> < 0.05). Dental abnormalities and the presence of tumors, along with Gorlin-Goltz (nevoid basal cell carcinoma syndrome) and Gardner syndromes and neurofibromatosis, were the most frequently reported conditions and recalled by the responders of the survey.</p><p><strong>Conclusions: </strong>There is limited integration between Medical Genetics and OM/OP. However, there is considerable knowledge about oral manifestations as indicators of genetic diseases among OM/OP experts.</p>\",\"PeriodicalId\":94016,\"journal\":{\"name\":\"Frontiers in oral health\",\"volume\":\"6 \",\"pages\":\"1573355\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2025-07-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12277291/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Frontiers in oral health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3389/froh.2025.1573355\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in oral health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3389/froh.2025.1573355","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study.
Introduction: This study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.
Methods: A cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a pre-structured online formulary. Statistical analyses were performed using Statistical Package for the Social Sciences (SPSS®). The questionnaire was sent to 273 specialists, members of the Brazilian Society of Stomatology and Oral Pathology (SOBEP).
Results: A total of 58 (21.2%) OM/OP specialists responded to the questionnaire. Most of the participants (67.2%) have declared attending theoretical courses on diagnosing and genetic testing for genetic diseases. Furthermore, 79.3% of participants reported that there are barriers to integration between the fields of Medical Genetics and OM/OP. Longer time working as a PhD was associated with knowledge of lesions predictive of genetic diseases (P < 0.05). Dental abnormalities and the presence of tumors, along with Gorlin-Goltz (nevoid basal cell carcinoma syndrome) and Gardner syndromes and neurofibromatosis, were the most frequently reported conditions and recalled by the responders of the survey.
Conclusions: There is limited integration between Medical Genetics and OM/OP. However, there is considerable knowledge about oral manifestations as indicators of genetic diseases among OM/OP experts.
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