Ameloblastomas are uncommon tumors of the odontogenic epithelium standardly treated with radical resection. Recent studies of the genetic landscape of ameloblastoma have revealed the frequent presence of the BRAF V600E mutation, suggesting a possible role for targeted chemotherapy. We present the case of a primary mandibular ameloblastoma found in a 13-year-old female with confirmed BRAF V600E mutation. Prior to invasive surgical intervention she was treated for 8 weeks with the MEK inhibitor trametinib, but her tumor demonstrated little radiographic, clinical, or histologic response. Previous case reports have shown ameloblastoma in adult patients to be responsive to other agents targeting the MAPK pathway. Our observations in the presented case demonstrate the need for further research into the utility of targeted chemotherapy in ameloblastoma treatment.
Historically, Eagle syndrome is a term that has been used to describe radiating pain in the orofacial region, foreign body sensation, and/or dysphagia due to a unilateral or bilateral elongated styloid process impinging upon the tonsillar region. Because elongated styloid processes–with or without associated Eagle syndrome–can present with various symptoms and radiographic findings, it can be challenging for healthcare practitioners to formulate an accurate diagnosis. Abnormal styloid anatomy can lead to a multitude of symptoms, including chronic orofacial/neck pain, thus masquerading as more commonly diagnosed conditions. In this report, we describe a patient who presented to our department with styloid process elongation and fracture. A careful history, physical examination, and a conebeam computed tomography (CBCT) investigation led to the diagnosis. The patient was then referred for appropriate care. This case report demonstrates the utilization of CBCT in differentiating a fracture site from a pseudo-joint that might mimic a fracture.
A recent effort has been made to better characterize the genetic architecture of schizophrenia, and apply a precision medicine model to its treatment. In pursuing this approach, it is likely that ethical concerns regarding cost-benefit uncertainties, the duty to inform and confidentiality will arise. Due to the complexity of schizophrenia's genetic profile, research efforts must be weighed against the risk to human subjects and the required consumption of valuable healthcare resources. Genetic risk profiles must be judged in conjunction with actionability and must be fully explained to patients and others potentially affected. However, confidentiality should be of paramount importance due to the presence of a risk-state phenotype, meaning the associated presence of clinically detectable neurocognitive deficiencies in those with elevated schizophrenia risk profiles.
The ideal age to undergo orthognathic surgery approximates the age of majority, and as a result a considerable portion of the patient population undergoing orthognathic surgery are legal minors. When a patient cannot legally provide consent, assent is often sought. Assent for surgical orthodontics is complicated by particular changes in cognitive variables during adolescence, the multiphased and multi-provider treatment course, and the intervention’s elective nature. Ultimately, inclusion of a high-quality assent process can help identify patients most likely to benefit from orthognathic surgery and increase patient satisfaction.
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