Background Loeys-Dietz syndrome (LDS), an autosomal dominant rare connective tissue disorder, has multisystemic manifestations, characterised by vascular tortuosity, aneurysms and craniofacial manifestations. Based on the associated gene mutations along the transforming growth factor-beta (TGF-β) pathway, LDS is presently classified into six subtypes. Methods We present the oro-dental features of a cohort of 40 patients with LDS from five subtypes. Results The most common oro-dental manifestations were the presence of a high-arched and narrow palate, and enamel defects. Other common characteristics included bifid uvula, submucous cleft palate, malocclusion, dental crowding and delayed eruption of permanent teeth. Both deciduous and permanent teeth had enamel defects in some individuals. We established a grading system to measure the severity of enamel defects, and we determined that the severity of the enamel anomalies in LDS is subtype-dependent. In specific, patients with TGF-β receptor II mutations (LDS2) presented with the most severe enamel defects, followed by patients with TGF-β receptor I mutations (LDS1). LDS2 patients had higher frequency of oro-dental deformities in general. Across all five subtypes, as well as within each subtype, enamel defects exhibited incomplete penetrance and variable expression, which is not associated with the location of the gene mutations. Conclusion This study describes, in detail, the oro-dental manifestations in a cohort of LDS, and we conclude that LDS2 has the most severely affected phenotype. This extensive characterisation, as well as some identified distinguishing features can significantly aid dental and medical care providers in the diagnosis and clinical management of patients with this rare connective tissue disorder.

Temporomandibular disorders (TMDs) are a group of conditions that cause pain and dysfunction in the temporomandibular joint (TMJ) and muscles that control mandibular movement. In most cases, the etiology is unclear and is considered multifactorial. Recent research suggests that some forms of TMD could be associated with specific TMJ morphological characteristics. This study aims to provide a review of the reported anatomical and degenerative morphological condylar characteristics of subjects with a clinical diagnosis of TMD as described with the use of CBCT imaging, as well as the detection of potential predisposing anatomical factors. This review was developed and reported in accordance with the PRISMA-ScR Checklist. A comprehensive search was performed in five databases. Reports were screened by two independent reviewers based on preselected inclusion and exclusion criteria. 45 studies were included in this review. The most frequently reported degenerative changes associated with TMD were condylar surface erosion, flattening, osteophytes, and sclerosis. Anatomical characteristics included a small condylar size and a posterior position of the condylar head in the TMJ. The anterosuperior area of the condylar head appears to be the most frequently affected. More studies are required to determine potential specific predisposing anatomical characteristics.

Participant recruitment is one of the most challenging aspects of a clinical trial, directly impacting both the study’s duration and the quality of its results. Therefore, reporting successful recruitment strategies is crucial. This study aimed to document the recruitment tactics and experiences of a research team during a university-based randomized clinical trial, conducted as part of a clinical research immersion program. Recruitment took place from October 2021 to October 2022. Before the study commenced, study team members received formal training in clinical trial participant recruitment from the Principal Investigator. The recruitment strategies were integrated into initial study design, which was approved by the Institutional Review Board. A multimodal approach was employed, incorporating both direct and indirect recruitment methods. These strategies successfully met the enrollment target within the twelve-month period. Throughout the process, team members acquired valuable knowledge in recruitment design and implementation, along with transferable interpersonal and networking skills. In-person recruitment was the most efficient and cost-effective strategy, followed by personal referrals. The primary challenge was accommodating participants’ availability. Other study teams should consider these recruitment strategies during their study designs. Additionally, the knowledge and skills gained by this study team underscore the value of experiential learning in research education.

Background: Elevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS). In this study, we provide a qualitative and quantitative analysis of the craniofacial and functional features among the LDS subtypes and SGS. Methods: We explore the variability within and across a cohort of 44 patients through deep clinical phenotyping, three-dimensional (3D) facial photo surface analysis, cephalometric and geometric morphometric analyses of cone-beam CT scans. Results: The most common craniofacial features detected in this cohort include mandibular retrognathism (84%), flat midface projection (84%), abnormal eye shape (73%), low-set ears (73%), abnormal nose (66%) and lip shape (64%), hypertelorism (41%) and a relatively high prevalence of nystagmus/strabismus (43%), temporomandibular joint disorders (38%) and obstructive sleep apnoea (23%). 3D cephalometric analysis demonstrated an increased cranial base angle with shortened anterior cranial base and underdevelopment of the maxilla and mandible, with evidence of a reduced pharyngeal airway in 55% of those analysed. Geometric morphometric analysis confirmed that the greatest craniofacial shape variation was among patients with LDS type 2, with distinct clustering of patients with SGS. Conclusions: This comprehensive phenotypic approach identifies developmental abnormalities that segregate to mutation variants along the TGF-β signalling pathway, with a particularly severe phenotype associated with TGFBR2 and SKI mutations. Multimodality assessment of craniofacial anomalies objectively reveals the impact of mutations of the TGF-β pathway with perturbations associated with the cranium and cranial base with severe downstream effects on the orbit, maxilla and mandible with the resultant clinical phenotypes.

Introduction: Oral cancer is a serious health problem with an increasing incidence worldwide. Researchers have studied the potential anti-cancerous action of vitamin D and its association with several cancers including oral cancer. The purpose of this scoping review is to synthesize the existing literature on the role of vitamin D on oral cancer. Methods: A scoping review of the literature was conducted using the framework developed by Arkey and O’Malley and the PRISMA-ScR guidelines. Nine databases were searched for peer-reviewed human studies published in English that either investigated the association of vitamin D with, or its impact on either the prevention or treatment of oral cancer. The authors then extracted data using a predefined form to summarize information about article type, study design, participant characteristics, interventions, and outcomes. Results: Fifteen articles met the review criteria. Among the 15 studies, 11 were case–control, 3 were cohort studies, and 1 was a clinical trial. In four studies, the evidence supported a preventive action of vitamin D against oral cancer and a reduction in the negative side effects associated with chemo- and radiotherapy. Several studies that focused on genetic polymorphisms and the expression of the 1,25 dihydroxyvitamin D3 receptor (VDR) suggested significant associations with vitamin D and increased oral cancer risk and worse survival rates. In contrast, two studies did not reveal a strong association between vitamin D and oral cancer. Conclusions: The current evidence suggests an association between vitamin D deficiency and an increased risk of oral cancer. VDR gene polymorphisms might also be a part of future preventive and therapeutic strategies against oral cancer. Carefully designed studies are required to explore and define what role, if any, vitamin D might play in the prevention and treatment of oral cancer.

Background: The maxillary labial frenum (MLF) is a soft tissue fold connecting the upper lip to the alveolar process. Abnormal attachment can cause periodontal, functional, and esthetic problems. Differential diagnosis is important and can prevent unnecessary interventions. This study aims to summarize the current evidence on the assessment and management of abnormal MLF. Methods: A thorough review of the literature was conducted. Five online databases were searched for relevant peer-reviewed human studies. Article screening and data extraction were performed independently by two reviewers using predefined inclusion/exclusion criteria. Information about article type, study design, participants’ characteristics, interventions, and outcomes was extracted and synthesized. Results: 52 articles met the review criteria. MLF is a dynamic structure characterized by a wide normal morphological variation. MLF assessment in infants has not been standardized. Studies in pre-adolescents reported a change in the thickness and position of the MLF observed over time, resulting in a lower prevalence of abnormal MLF morphology. Studies in adolescents and adults reported variable differential diagnosis criteria. Lasers appear as the most advantageous frenectomy modality. Conclusions: There is a need for more objective MLF diagnostic protocols and treatment guidelines, which could prevent unnecessary surgical interventions.