Frequency and variability of nonmetric dental crown traits of primary and permanent molars in a group of orthodontic patients.

BACKGROUND: The present study aimed to assess the frequency and variation of 13 nonmetric dental crown traits (NDCT) in permanent and primary molars in German orthodontic patients. METHODS: Dental records from orthodontic patients were screened and evaluated. First and second permanent and primary upper and lower molars (from left and right sides) were assessed. Teeth with cavitated dental caries, occlusal wear, restorations and obvious dental deformities were not evaluated. The NDCT for permanent molars were identified and scored according to the odontoscopic system developed by Arizona State University Dental Anthropology System (ASUDAS). The NDCT for primary molars were identified and scored according to ASUDAS, Hanihara's method and Sciulli's method. The χ2 test was used to investigate side preference and sexual dimorphism at a significance level of p ≤ 0.050. RESULTS: A total of 163 orthodontic patients (82 males and 81 females) aged 8-14 years were included. A sexual dimorphism was observed for the hypocone in first upper permanent molar (p = 0.041). The protostylid was observed in lower permanent molars (range 2.1-10%). Males presented more hypoconulid than females (p = 0.019). Only females presented the distal trigonid crest in lower first permanent molars (p = 0.002). The most common groove pattern in primary molars was Y; male presented more Y grade than females in the lower second primary molar (p = 0.039). Asymmetry was observed in some traits, ranging from 0 to 100%. CONCLUSION: The present study showed the frequency of NDCT of molars in German orthodontic patients and demonstrated that some traits present sexual dimorphism.

Association of defects of enamel with polymorphisms in the vitamin D receptor and parathyroid hormone genes.

This cross-sectional study aimed to investigate the association between developmental defects of enamel (DDE) and single nucleotide polymorphisms (SNPs) in the genes encoding the vitamin D receptor (VDR) and parathyroid hormone (PTH). Orthodontic patients receiving treatment at a dental school were selected through convenience sampling. Intra-oral photographs were used to assess DDE, which were classified according to the criteria proposed by Ghanim et al. (2015) by a single calibrated examiner (Kappa>0.80). Enamel hypoplasia, molar-incisor hypomineralization (MIH), hypomimineralized second primary molar (HSPM), and non-MIH/HSPM demarcated opacities were considered for the analysis. Genomic DNA was extracted from buccal cells. The SNPs in VDR (rs7975232) and PHT (rs694, rs6256, and rs307247) were genotyped using real-time polymerase chain reactions (PCR). Statistical analyses were performed using the PLINK software (version 1.03, designed by Shaun Purcell, EUA). Chi-square or Fisher's exact tests were performed at a significance level of 5%. Ninety-one (n=91) patients (49 females and 42 males) (mean age of 14.1±5.8 years) were included. The frequency of DDE was 38.5% (35 patients). Genotype distributions were in Hardy-Weinberg equilibrium. No significant statistical association was found between DDE and the SNPs evaluated. A borderline association (p=0.09) was observed between DDE and the CC haplotype for SNP rs7975232 in VDR. In conclusion, the selected SNPs in VDR and PTH genes were not associated with DDE in the studied samples.

Correction: The investigation of WNT6 and WNT10A single nucleotide polymorphisms as potential biomarkers for dental pulp calcification in orthodontic patients.

[This corrects the article DOI: 10.1371/journal.pone.0288782.].

Longitudinal analysis of microcirculatory parameters in gingival tissues after tooth extraction in patients with different risk profiles for wound healing disorders - a pilot study.

OBJECTIVES: We aimed to establish a risk profile for intraoral wound healing disorders based on measurements of microcirculation in gingival tissues. MATERIALS AND METHODS: Oxygen saturation (SO2) and blood flow in gingival tissues were measured with tissue spectrometry and laser doppler spectroscopy in 37 patients before/after tooth extractions. Patients were assigned to four groups: anamnestically and periodontally healthy patients (n = 7), anamnestically healthy but suffering from periodontitis (n = 10), anamnestically healthy but smoking and suffering from periodontitis (n = 10) and suffering from diabetes and periodontitis (n = 10). Measurements were performed at three different time points: Baseline measurement (T0), one day post extractionem (p.e.) (T1) and seven days p.e. (T2). RESULTS: Baseline SO2 values were higher in control patients (p = .038). This effect was most evident in comparison to smokers suffering from periodontitis (p = .042), followed by diabetics suffering from periodontitis (p = .09). An opposite trend was seen for blood flow. Patients suffering from periodontitis demonstrated higher blood flow values (p = .012). Five patients, which belonged to the group of smokers suffering from periodontitis, showed clinically a delayed wound healing. CONCLUSION: Differences in SO2 and blood flow of gingival tissue could be detected in different groups of patients with existing periodontitis compared to control patients. CLINICAL RELEVANCE: Lower baseline SO2 values could be a warning signal for possible wound healing disorders after oral surgery.

Clinical implications of a mathematical-geometrical model to predict changes in the anterior arch dimension.

PURPOSE: Anterior arch length (AL) and the alterations in its dimension following incisor movements were shown to be predictable for an individual patient using a mathematical-geometrical model based on a third-degree parabola. Although the model has been validated previously, it is hard to apply in daily orthodontic routine. Thus, the aim of this study was to modify the model using different approaches to allow its establishment in daily routine. METHODS: This retrospective study was based on a study collective, which was described previously and consisted of 50 randomly chosen dental casts and lateral cephalograms taken before (T0) and after (T1) orthodontic treatment with fixed appliances. A JAVA computer program (Oracle, Austin, TX, USA) was developed to predict AL changes following therapeutic changes of arch width, depth or incisor inclination/position, taking the type of tooth movement into account. Performing exemplary AL calculations with the computer program, general rules and nomograms were set up, followed by multiple linear regression analyses to establish easy-to-use regression equations. RESULTS: The JAVA computer program is available for download. Sagittal changes showed more effect on AL than transverse modifications. Protruding incisors increased AL, but also reduced overbite. The extent of alteration in AL depended on the initial depth, width, incisor inclination, tooth movement type and distance between the incisal edge and the centre of rotation. CONCLUSIONS: The computer program precisely predicts individual changes in AL but is time-consuming. The presented regression equations and nomograms, considering metric variables, are easier to apply clinically and the differences compared to the AL calculated by the computer program are negligible.

Is There Variation in the Morphology of the Frontal Sinus in Individuals with Different Craniofacial Patterns? A Systematic Review with Meta-Analysis.

To evaluate differences in the morphology of the frontal sinus in adolescents and adults with different craniofacial patterns, searches up to April 2024 were conducted in six databases and other information sources to identify observational studies. Study selection, data extraction, and quality assessment using the NOS scale were performed independently by two reviewers. Random effects meta-analyses were conducted to estimate the difference in frontal sinus measurements between different craniofacial skeletal patterns (α = 0.05). The certainty of the evidence was evaluated according to GRADE. Fourteen studies were included in the review. All studies had methodological limitations that affected their quality. The syntheses showed that skeletal Class II subjects presented a significantly smaller width of the frontal sinus than skeletal Class I subjects (MD = 0.56; 95% CI: 0.38, 0.74; p < 0.0001; I2 = 3%). Skeletal Class III subjects showed a frontal sinus width (MD = -0.91; 95% CI: -1.35, -0.47; p < 0.0001; I2 = 36%) and area (MD = -28.13; 95% CI: -49.03, -7.23; p = 0.0084; I2 = 66%) significantly larger than those of the skeletal Class I subjects. The available evidence suggests a positive relationship between mandibular and frontal sinus size. There is limited evidence to make reliable estimates of the association of other craniofacial patterns and frontal sinus characteristics. These reported results are not conclusive and should be evaluated carefully due to the very low certainty of the evidence. The current evidence is scarce and consists of studies with methodological limitations; the results of the studies are often inconsistent, and the pooled estimates are imprecise. New high-quality research is still necessary.

Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile.

The vertical facial profile is a crucial factor for facial harmony with significant implications for both aesthetic satisfaction and orthodontic treatment planning. However, the role of single nucleotide polymorphisms (SNPs) in the development of vertical facial proportions is still poorly understood. This study aimed to investigate the potential impact of some SNPs in genes associated with craniofacial bone development on the establishment of different vertical facial profiles. Vertical facial profiles were assessed by two senior orthodontists through pre-treatment digital lateral cephalograms. The vertical facial profile type was determined by recommended measurement according to the American Board of Orthodontics. Healthy orthodontic patients were divided into the following groups: "Normodivergent" (control group), "Hyperdivergent" and "Hypodivergent". Patients with a history of orthodontic or facial surgical intervention were excluded. Genomic DNA extracted from saliva samples was used for the genotyping of 7 SNPs in RUNX2, BMP2, BMP4 and SMAD6 genes using real-time polymerase chain reactions (PCR). The genotype distribution between groups was evaluated by uni- and multivariate analysis adjusted by age (alpha = 5%). A total of 272 patients were included, 158 (58.1%) were "Normodivergent", 68 (25.0%) were "Hyperdivergent", and 46 (16.9%) were "Hypodivergent". The SNPs rs1200425 (RUNX2) and rs1005464 (BMP2) were associated with a hyperdivergent vertical profile in uni- and multivariate analysis (p-value < 0.05). Synergistic effect was observed when evaluating both SNPs rs1200425- rs1005464 simultaneously (Prevalence Ratio = 4.0; 95% Confidence Interval = 1.2-13.4; p-value = 0.022). In conclusion, this study supports a link between genetic factors and the establishment of vertical facial profiles. SNPs in RUNX2 and BMP2 genes were identified as potential contributors to hyperdivergent facial profiles.

Randomized controlled clinical trial on the efficacy of a novel antimicrobial chewing gum in reducing plaque and gingivitis in adolescent orthodontic patients.

OBJECTIVES: Chewing gums containing antiseptics or other antimicrobial substances may be effective in reducing plaque and gingivitis. Therefore, the aim of this randomized placebo-controlled clinical trial was to investigate the efficacy of a novel antimicrobial chewing gum containing essential oils (cinnamon, lemon, peppermint) and extracts on reduction of dental plaque and gingivitis as well as on oral health-related quality of life (OHRQoL) in adolescent orthodontic patients. MATERIALS: 52 patients (11-22 years of age) were randomly assigned to use a test chewing gum (COVIDGUM, Clevergum) or a commercially available control chewing gum over a period of 10 days. Approximal plaque index (API), papillary bleeding index (PBI) and an OHRQoL questionnaire for children (COHIP-G19) were assessed at baseline (BL), after 10 days (10d) and 30 days (30d). In addition, oral health and oral hygiene related questions of the COHIP-G19 questionnaire were evaluated separately in subscales at each timepoint. Data were analyzed using non-parametrical statistical procedures (α = 0.05). RESULTS: API and PBI decreased significantly over time from BL to 10d and from BL to 30d in both groups, without significant differences between the groups. In both groups, the COHIP-G19 score, oral health subscale and oral hygiene subscale decreased significantly over time. Regarding the oral hygiene subscale, the test group showed significantly better scores at 30d (p = 0.011). CONCLUSION: Both chewing gums performed similarly effective in terms of reducing plaque accumulation and gingival inflammation and improving OHRQoL. CLINICAL RELEVANCE: Chewing gums without antimicrobial ingredients may be sufficient to decrease plaque accumulation and gingival inflammation.

Mandibular and dental measurements for sex determination using machine learning.

The present study tested the combination of mandibular and dental dimensions for sex determination using machine learning. Lateral cephalograms and dental casts were used to obtain mandibular and mesio-distal permanent teeth dimensions, respectively. Univariate statistics was used for variables selection for the supervised machine learning model (alpha = 0.05). The following algorithms were trained: logistic regression, gradient boosting classifier, k-nearest neighbors, support vector machine, multilayer perceptron classifier, decision tree, and random forest classifier. A threefold cross-validation approach was adopted to validate each model. The areas under the curve (AUC) were computed, and ROC curves were constructed. Three mandibular-related measurements and eight dental size-related dimensions were used to train the machine learning models using data from 108 individuals. The mandibular ramus height and the lower first molar mesio-distal size exhibited the greatest predictive capability in most of the evaluated models. The accuracy of the models varied from 0.64 to 0.74 in the cross-validation stage, and from 0.58 to 0.79 when testing the data. The logistic regression model exhibited the highest performance (AUC = 0.84). Despite the limitations of this study, the results seem to show that the integration of mandibular and dental dimensions for sex prediction would be a promising approach, emphasizing the potential of machine learning techniques as valuable tools for this purpose.

The Complexity of Skeletal Transverse Dimension: From Diagnosis, Management, and Treatment Strategies to the Application of Collaborative Cross (CC) Mouse Model.

This study investigates the significance of skeletal transverse dimension (STD) in orthodontic therapy and its impact on occlusal relationships. The primary goal is to enhance understanding and promote the integration of transverse skeletal diagnostics into routine orthodontic assessments. To achieve this aim, the study employs a comprehensive approach, utilizing model analysis, clinical assessments, radiographic measurements, and occlusograms. The initial step involves a meticulous assessment of deficiencies in the maxilla, mainly focusing on transverse dimension issues. Various successful diagnostic methods are employed to ascertain the type and presence of these deficiencies. Furthermore, the study compares surgically assisted maxillary expansion (SARME) and orthopedic maxillary expansion (OME) in addressing skeletal transverse issues. Stability assessments and efficacy analyses are conducted to provide valuable insights into the superiority of SARME over OME. The findings reveal that proper evaluation of STD is crucial in orthodontic diagnosis, as overlooking transverse dimension issues can lead to complications such as increased masticatory muscle activity, occlusal interferences, and an elevated risk of gingival recession. Surgically assisted maxillary expansion emerges as a more stable solution than orthopedic methods. In conclusion, incorporating skeletal transverse diagnostics into routine orthodontic assessments is imperative for achieving optimal occlusal relationships and minimizing negative consequences on dentition, periodontium, and joints. The study emphasizes the significance of accurate three-dimensional assessments and recommends the consideration of SARME over OME for addressing skeletal transverse deficiencies. Finally, the Collaborative Cross (CC) mouse model is also a novel mouse model for studying complex traits. Exploring the Collaborative Cross mouse model opens avenues for future research, promising further insights into transverse skeletal issues in orthodontics.

Association between dental age and malocclusions: a systematic review.

BACKGROUND: The evidence in the literature suggests that some skeletal or dental malocclusions are involved with dental development, resulting in advanced or delayed dental age (DA). The purpose of this systematic review was to investigate the association between DA and different types of malocclusions. METHODS: The search was carried out on PubMed, Scopus, Web of Science, Virtual Health Library, and in the gray literature. Observational studies that evaluated the association between DA and sagittal, vertical, or transversal malocclusions were included. The quality assessment was performed using the Newcastle-Ottawa Scale (NOS). The data from primary studies were narratively synthesized. The certainty of evidence was evaluated using the GRADE approach. The study was conducted from August 2023 to October 2023. RESULTS: One Thousand Nine Hundred Ninety-One records were identified in the initial search. Twenty (n = 20) studies were included. Most of the studies (n=15) presented a moderate quality according to NOS. Twelve studies evaluated the association between DA and sagittal discrepancies; eight studies evaluated vertical discrepancies, and only one study analyzed a transversal discrepancy. Demirjian's method for DA assessment was the most used among the studies. The primary studies observed that patients of both sexes presenting a vertical growth pattern and males with skeletal Class III malocclusion tend to have advanced DA. The study that investigated transversal malocclusion found that unilateral posterior cross-bite is associated with delayed DA. The certainty of evidence was very low for all outcomes evaluated. CONCLUSION: DA may be associated with the type of malocclusion. It is suggested that DA can be used as an initial diagnostic tool in orthodontics. Future well-designed studies should be performed in order to investigate the association between DA and different types of malocclusions in more detail. TRIAL REGISTRATION: This study was registered in the PROSPERO database (CRD42023454207).

BMP2 rs1005464 is associated with mandibular condyle size variation.

This study aimed to evaluate the association between single nucleotide polymorphisms (SNPs) in endochondral development-related genes and mandibular condyle shape, size, volume, and symmetry traits. Cone-beam Computed Tomographies and genomic DNA from 118 individuals were evaluated (age range: 15-66 years). Data from twelve 3D landmarks on mandibular condyles were submitted to morphometric analyses including Procrustes fit, principal component analysis, and estimation of centroid sizes and fluctuating asymmetry scores. Condylar volumes were additionally measured. Seven SNPs across BMP2, BMP4, RUNX2 and SMAD6 were genotyped. Linear models were fit to evaluate the effect of the SNPs on the mandibular condyles' quantitative traits. Only the association between BMP2 rs1005464 and centroid size remained significant after adjusting to account for the false discovery rate due to multiple testing. Individuals carrying at least one A allele for this SNP showed larger condylar size than common homozygotes GG (ß = 0.043; 95% CI: 0.014-0.071; P value = 0.028). The model including BMP2 rs1005464, age and sex of the participants explained 17% of the variation in condylar size. Shape, volume, and symmetry were not associated with the evaluated SNPs. These results suggest that BMP2 rs1005464 might be associated with variation in the mandibular condyles size.

Calcification patterns and morphology of Sella turcica are related to anteroposterior skeletal malocclusions: A cross-sectional study.

BACKGROUND: The sphenoid bone is an irregular, unpaired, symmetrical bone located in the middle of the anterior skull and is involved in craniofacial growth and development. Since the morphology of Sella turcica (ST) is associated with different craniofacial patterns, this study aimed to investigate if there is a correlation between ST morphology on the one hand and sagittal craniofacial patterns on the other hand. METHODS: This study was conducted with a convenience sample that included Brazilian individuals undergoing orthodontic treatment. Lateral cephalograms were used to evaluate the calcification pattern and morphology of ST, as well as skeletal class by analyzing the ANB angle. Pearson's chi-square test with Bonferroni post-hoc test was performed to evaluate the association between ST calcification pattern and morphology, and anteroposterior skeletal malocclusion. The established significance level was 0.05. RESULTS: The study collective was comprised of 305 orthodontic patients (178 (58.4 %) female, 127 (41.6 %) male), who had a mean age of 23.2 (±10.6) years. 131 participants (42.9 %) presented skeletal class I, 142 (46.6%) skeletal Class II, and 32 (10.5%) had a skeletal class III. The degree of prognathism of the mandible showed a homogenous distribution within the study collective (91 (29.9 %) orthognathic, 100 (32.9 %) retrognathic, 113 (37.2 %) prognathic mandible). Concerning the maxilla, 92 (30.2%) individuals presented an orthognathic upper jaw, whereas 60 (19.7%) showed maxillary retrognathism and 153 (50.2%) maxillary prognathism. Compared to patients with skeletal class I, skeletal class III individuals presented significantly more hypertrophic posterior clinoid process (p<0.007) and pyramidal shape of the dorsum of the ST (p<0.038). CONCLUSIONS: Our results suggest that the hypertrophic posterior clinoid process and pyramidal shape of the ST dorsum are more prevalent in individuals with skeletal class III malocclusion.

Exploring the sex-associated differences in molars fused roots.

BACKGROUND: Human sexual dimorphism is associated with many biological characteristics, including dental variables. OBJECTIVES: To investigate if molars fused roots present sex-associated differences. METHODS: Panoramic radiographs were used to investigate the frequency and distribution of permanent molars fused roots. Only patients with all first and second permanent molars were included. Third molars were not investigated. Any molar with roots fused apical to the usual furcal position were considered molar fused roots. Comparisons between males and females were performed using chi-square or Fisher's and Mann-Whitney tests and the established alpha was 5% (p<0.05). Sex-differential liability models were also proposed. RESULTS: A total of 84 males and 86 females were included and 1360 molars were analyzed. Among them, 46 (26.06%) present at least one molar with fused root. Second maxillary molars were the most affected teeth. There was an association between sex and molars with fused roots. Females had a 3.4 higher chance to present fused roots than males (OR=3.4, CI 95% 1.6-6.8; p=0.0008). The female: male ratio of molars with fused roots was 2.5:1. The number of molars with fused roots ranged from 1 to 6 per patient, and the mean number of Females presented more molars with fused roots (mean = 1.01; standard deviation = 1.52) than males (mean = 0.31; standard deviation = 0.85) (p<0.05). CONCLUSIONS: Molar fused root of permanent teeth presents sex-associated differences, in which females are more affected than males. Our results support sex-differential liability models for molars fused roots.

Exploring the association between PITX2, third molars agenesis and sella turcica morphology : PITX2, third molars agenesis and sella turcica morphology.

OBJECTIVES: PITX2 is required for mammalian development and single nucleotide polymorphisms (SNPs) in this gene could be involved in dental agenesis and sella turcica patterns. Thus, the present study evaluated the association between SNPs in PITX2, third molars agenesis and sella turcica phenotypes. MATERIALS AND METHODS: The sample consisted of healthy orthodontic German patients with lateral cephalometric radiographs with clearly visualization of the sella turcica, and dental orthopantomograms. The morphological variations of the sella turcica were evaluated using the lateral cephalograms, while third molar agenesis was evaluated using orthopantomograms. DNA isolated from buccal cells was used for genotyping three SNPs in PITX2 (rs3796902, rs1947187, and rs2595110). The analyzes were performed using a significance of 5%. There was no association between third molar agenesis and sella turcica phenotypes (p > 0.05). SNPs in PITX2 were also not associated with third molars agenesis (p > 0.05). RESULTS: SNPs in PITX2 were associated with sella turcica phenotypes. The rs3796902 was associated with hypertrophic posterior clinoid process (p = 0.013). The rs1947187 and rs2595110 were associated with sella turcica bridge type A (p = 0.013 and p = 0.011, respectively for genotype distribution). Patients that carry the genotypes GG-CC-AG (rs3796902- rs1947187- rs2595110) had 7.2 higher chance to present sella turcica bridge type A (p = 0.002; Odds ratio = 7.2, Confidence interval 95% 2.04-27.04). CONCLUSIONS: Third molar agenesis was not associated with SNPs in PITX2 and sella turcica phenotypes. SNPs in PITX2 may have an important role in sella turcica pattern.

New insights into the genetics of mandibular retrognathism: novel candidate genes.

PURPOSE: Mandibular retrognathism (MR) is a common skeletal malocclusion in humans with a strong genetic component. Single nucleotide polymorphisms (SNPs) in genes encoding epidermal growth factor (EGF) and EGF receptor (EGFR) could be involved in the etiology of mandibular retrognathism. Therefore, in this study, we investigated whether SNPs in the genes encoding for EGF and EGFR are associated with MR in German teenagers. METHODS: This nested case-control study evaluated German orthodontic patients, aged 10-18 years. DNA, which was isolated from buccal epithelial cells using two cytobrushes, was used for genotyping analysis and digital pretreatment lateral cephalograms were examined to calculate SNB and ANB. Patients with a retrognathic mandible (SNB < 78°) were included as cases, while patients with an orthognathic mandible (SNB = 78-82°) were included as controls. Four SNPs in the genes encoding for EGF and EGFR were chosen and genotyped using real-time PCR. Allele, genotype, and haplotype frequency were compared across groups (α = 5%). RESULTS: Finally, 119 patients were included in this study (45 orthognathic mandible, 74 retrognathic mandible). The minor allele G in rs4444903 (EGF) was statistically more frequent in individuals with an orthognathic mandible (p = 0.008). The haplotype formed by the mutant alleles for rs4444903|rs2237051 (EGF; G|A) was statistically more frequent in the orthognathic mandible group (p = 0.007). The SNPs rs4444903 and rs2237051 in EGF, and rs2227983 in EGFR were statistically associated with a decreasing risk of developing a retrognathic mandible according to univariate and multivariate statistical analysis (p < 0.05). CONCLUSION: SNPs in EGF (rs4444903 and rs2237051) and EGFR (rs2227983) were associated with MR in our German sample and could be genetic biomarkers for early and individualized diagnostic identification of retrognathic mandibular development by means of genetic screening tests.

Non-syndromic supernumerary teeth and association with a self-reported family history of cancer.

BACKGROUND: Supernumerary teeth are an alteration of dental developmental and result in the formation of teeth above the usual number. Epidemiologic studies suggested that patients with dentofacial anomalies and their family members may present an increased risk of developing cancer, including female breast cancer and gynecologic cancers. These observations indicate that genetic alterations that result in dental anomalies may be related to cancer development. Thus, the aim of the present study was to evaluate the association between supernumerary teeth and a family history of female breast cancer and gynecologic cancers. METHODS: The diagnosis of supernumerary teeth was based on clinical and radiographic examinations. For data collection, a questionnaire asking for information regarding ethnicity, age, gender, and self-reported family history of cancer up to the second generation was used. Statistical analysis was performed using the Χ2 test and Fisher's exact test with an established α of 5%. RESULTS: A total of 344 patients were included; 47 of them had one or more non-syndromic supernumerary teeth (not associated with any syndrome or cleft lip and palate) and 297 were control patients. Age, ethnicity, and gender distribution were not statistically different between the group with supernumerary teeth and the control group (p > 0.05). The supernumerary teeth were most commonly observed in the incisors area. Breast cancer (n = 17) was the most commonly self-reported type of cancer, followed by uterine cervical (n = 10), endometrial (n = 2), and ovarian (n = 1) cancers. Endometrial cancer was significantly associated with the diagnosis of supernumerary teeth (p = 0.017). CONCLUSION: This study suggests that patients with supernumerary teeth possess a higher risk of having family members with endometrial cancer.

Impact of Mechanical Strain and Nicotinamide on RUNX2-Deficient Osteoblast Mimicking Cleidocranial Dysplasia.

Cleidocranial dysplasia (CCD) is a rare genetic defect caused by a heterozygous mutation of runt-related transcription factor 2 (RUNX2), which is important for osteoblast and skeletal development. RUNX2-deficiency causes extra- and intra-oral malformations that often require orthodontic treatment. Nicotinamide (NAM) affects bone remodelling processes. As these are crucial for orthodontic therapy, NAM could improve orthodontic treatment in CCD patients. This study investigates the effect of NAM in control and RUNX2-deficient osteoblasts under mechanical strain mimicking orthodontic treatment. First, the optimal NAM concentration and the differences in the expression profile of control and RUNX2-deficient osteoblasts were determined. Subsequently, osteoblasts were exposed to tensile and compressive strain with and without NAM, and the expression of genes critically involved in bone remodelling was investigated. NAM increased the expression of bone remodelling genes. RUNX2-deficient osteoblasts expressed more receptor activator of NFkB ligand (RANKL) and interleukin-6 (IL6), but less colony-stimulating factor-1 (CSF1). Most of the positive effects of NAM on bone remodelling genes were impaired by mechanical loading. In conclusion, NAM stimulated osteoblast differentiation by increasing the expression of RUNX2 and regulated the expression of osteoclastogenic factors. However, the positive effects of NAM on bone metabolism were impaired by mechanical loading and RUNX2 deficiency.

Anterior Open Bite Malocclusion: From Clinical Treatment Strategies towards the Dissection of the Genetic Bases of the Disease Using Human and Collaborative Cross Mice Cohorts.

Anterior open bite malocclusion is a complex dental condition characterized by a lack of contact or overlap between the upper and lower front teeth. It can lead to difficulties with speech, chewing, and biting. Its etiology is multifactorial, involving a combination of genetic, environmental, and developmental factors. Genetic studies have identified specific genes and signaling pathways involved in jaw growth, tooth eruption, and dental occlusion that may contribute to open bite development. Understanding the genetic and epigenetic factors contributing to skeletal open bite is crucial for developing effective prevention and treatment strategies. A thorough manual search was undertaken along with searches on PubMed, Scopus, Science Direct, and Web of Science for relevant studies published before June 2022. RCTs (clinical trials) and subsequent observational studies comprised the included studies. Orthodontic treatment is the primary approach for managing open bites, often involving braces, clear aligners, or other orthodontic appliances. In addition to orthodontic interventions, adjuvant therapies such as speech therapy and/or physiotherapy may be necessary. In some cases, surgical interventions may be necessary to correct underlying skeletal issues. Advancements in technology, such as 3D printing and computer-assisted design and manufacturing, have improved treatment precision and efficiency. Genetic research using animal models, such as the Collaborative Cross mouse population, offers insights into the genetic components of open bite and potential therapeutic targets. Identifying the underlying genetic factors and understanding their mechanisms can lead to the development of more precise treatments and preventive strategies for open bite. Here, we propose to perform human research using mouse models to generate debatable results. We anticipate that a genome-wide association study (GWAS) search for significant genes and their modifiers, an epigenetics-wide association study (EWAS), RNA-seq analysis, the integration of GWAS and expression-quantitative trait loci (eQTL), and micro-, small-, and long noncoding RNA analysis in tissues associated with open bite in humans and mice will uncover novel genes and genetic factors influencing this phenotype.