RESUMO
Genomic testing, including whole exome sequencing (WES), can result in specific changes to medical management. To illustrate the clinical utility of WES for complex neuropsychiatric disease, we report a male adolescent with autism spectrum disorder, psychosis, and regression and discuss how the WES findings guided his pharmacologic management.
Assuntos
Transtorno do Espectro Autista/tratamento farmacológico , Transtorno do Espectro Autista/genética , Proteínas de Ligação a DNA/genética , Transtornos Psicóticos/tratamento farmacológico , Transtornos Psicóticos/genética , Fatores de Transcrição/genética , Adolescente , Gerenciamento Clínico , Exoma , Predisposição Genética para Doença , Humanos , Masculino , Sequenciamento do ExomaRESUMO
A high-risk esthetically driven restorative case requires the dental team, along with the patient, to have a clear vision of the final outcome. In this case of a 33-year-old woman who wanted to improve her smile, esthetic problems stemmed from a retained deciduous maxillary left canine along with an impacted tooth No. 11. Among a number of concerns was the shape and color of the deciduous canine and the uneven length of the maxillary central incisors. A treatment plan that included orthodontics with removable aligners, occlusal adjustment, composite restorations, extraction and implant placement, indirect porcelain veneers, and a custom abutment and PFM crown was successfully executed in four phases over the course of more than 4 years.