Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study.

IF 3.1 Q1 DENTISTRY, ORAL SURGERY & MEDICINE

Frontiers in oral health Pub Date : 2025-07-07 eCollection Date: 2025-01-01 DOI:10.3389/froh.2025.1573355

Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D Coletta, Hercílio Martelli-Júnior

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Abstract

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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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。

前言：本研究旨在分析巴西口腔医学和病理学（OM/OP）专家对遗传病的知识和态度。方法：对巴西OM/OP专家进行了横断面和描述性研究，使用预先结构化的在线处方。使用社会科学统计软件包（SPSS®）进行统计分析。问卷发给了273名专家，他们是巴西口腔和口腔病理学会（SOBEP）的成员。结果：共有58名（21.2%）OM/OP专家参与问卷调查。大多数参与者（67.2%）表示参加了遗传病诊断和基因检测的理论课程。此外，79.3%的参与者报告说，医学遗传学和OM/OP领域之间的整合存在障碍。博士工作时间越长，对遗传病病变的预测知识越丰富(P结论：医学遗传学与OM/OP之间的整合有限。然而，OM/OP专家对作为遗传病指标的口腔表现有相当多的了解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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