0000000000477896
AUTHOR
Renato-assis Machado
Pfeiffer syndrome: clinical and genetic findings in five Brazilian families
Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR seque…
Self-regulated learning perception of undergraduate dental students during the COVID-19 pandemic: A nationwide survey in Brazil
Background: This study aimed to evaluate the perception of self-regulated learning of Brazilian undergraduate dental students during the COVID-19 pandemic. Material and Methods: A nationwide cross-sectional survey was conducted. Data were collected in 2020, through an anonymous self-administered virtual questionnaire, which comprised an initial section related to the students' sociodemographic data, category of educational institution where they enrolled, and the possible impacts of COVID-19 pandemic on family income, teaching activities (maintained remotely or totally suspended), and self-perception of academic performance during e-learning. The second part comprising 31 questions related …