RESUMEN
OBJECTIVES: To identify the molecular etiology of distinct dental anomalies found in eight Thai patients and explore the mutational effects on cellular functions. MATERIALS AND METHODS: Clinical and radiographic examinations were performed for eight patients. Whole exome sequencing, mutant protein modelling, qPCR, western blot analysis, scratch assays, immunofluorescence, confocal analysis, in situ hybridization, and scanning electron micrography of teeth were done. RESULTS: All patients had molars with multiple supernumerary cusps, single-cusped premolars, and a reduction in root number. Mutation analysis highlighted a heterozygous c.865A>G; p.Ile289Val mutation in CACNA1S in the patients. CACNA1S is a component of the slowly inactivating L-type voltage-dependent calcium channel. Mutant protein modeling suggested that the mutation might allow leakage of Ca2+ or other cations, or a tightening, to restrict calcium flow. Immunohistochemistry analysis showed expression of Cacna1s in the developing murine tooth epithelium during stages of crown and root morphogenesis. In cell culture, the mutation resulted in abnormal cell migration of transfected CHO cells compared to wildtype CACNA1S, with changes to the cytoskeleton and markers of focal adhesion. CONCLUSIONS: The malformations observed in our patients suggest a role for calcium signaling in organization of both cusps and roots, affecting cell dynamics within the dental epithelium.
RESUMEN
The purpose of this project was to improve the identification, treatment, and referral of domestic violence victims by prehospital care providers (Emergency Medical Technicians (EMTs) and paramedics) and emergency department personnel. The training focused on the definition of domestic violence, procedures to use when questioning patients about abuse, Utah's mandatory reporting law, and the referral of victims to community resources. While the training did improve the participant's knowledge concerning referral options and the law, health care providers still did not believe that domestic violence was a problem in their community. Although providers felt confident asking questions about abuse, the providers did not question patients unless they suspected domestic violence was the cause of the injury. Further training needs to be offered to staff to encourage regular screening for all adult patients.
