Maxillary Protrusion with Severe Overjet Treated by Maxillary Anterior Alveolar Osteotomy.

In addition to affecting oral functions such as temporomandibular joint function, mastication, and speech, malocclusion caused by skeletal maxillary prognathism also entails sociopsychological implications. Surgical orthodontic treatment to improve occlusion and oral function and to correct esthetic disharmony is important to improve patients' quality of life. We report the case of a 32-year-old woman who visited our hospital with a chief complaint of proclined upper front teeth. Clinical examination revealed maxillary overgrowth and severe labial inclination of the maxillary incisors with palatal gingival recession. The incisal protrusion was corrected with a maxillary anterior alveolar osteotomy-a surgical orthodontic method that could improve the overbite without causing excessive lingual inclination, while also minimizing orthodontic movement of the maxillary anterior teeth. This treatment is generally indicated in cases of maxillary prognathism with a relatively stable occlusal relationship in the molar region. As a result of the treatment, the patient's chief complaint improved and a long-term functional occlusion was achieved. This paper outlines the pre- and posttreatment skeletal and occlusal changes.

Quantitative and qualitative evaluation of the masseter muscle by ultrasonography and correlation with whole body health status.

[Purpose] Ultrasonography can be used to non-invasively analyze any cross-section of the human body and to measure tissue elasticity, thickness, and brightness. This study was performed to examine the quantitative and qualitative changes in the masseter muscle at rest and at maximal occlusion, and to evaluate the relationship between these changes and the general health of the individual. [Participants and Methods] The study cohort comprised 30 healthy adults. Correlations between basic participant information (sex, age, height, body weight, body mass index, body fat, maximum bite force, handgrip strength, and tongue pressure) and masseter muscle ultrasonographic data were examined. [Results] Masseter muscle thickness was significantly greater in males than in females. Body weight and body mass index correlated positively with masseter muscle thickness. Body mass index and body fat percentage correlated positively with masseter muscle brightness. Tongue pressure correlated positively with handgrip strength. [Conclusion] Our analyses of muscle thickness and brightness suggest that ultrasonography may be useful in evaluating masseter muscle quantity and quality, and that the condition of the masseter muscle may correlate with the overall health status of the individual.

A New Intraoral Six-Degrees-of-Freedom Jaw Movement Tracking Method Using Magnetic Fingerprints.

We proposed a novel jaw movement tracking method that can measure in six degrees of freedom. The magnetic field generated by a permanent magnet paired with a small, low-power-consumption Hall effect magnetic sensor is used to estimate the relative distance between two objects-in this instance, the lower and upper jaws. By installing a microelectromechanical system (MEMS) orientation sensor in the device, we developed a mouthpiece-type sensing device that can measure voluntary mandibular movements in three-dimensional orientation and position. An evaluation of individuals wearing this device demonstrated its ability to measure mandibular movement with an accuracy of approximately 3 mm. Using the movement recording feature with six degrees of freedom also enabled the evaluation of an individual's jaw movements over time in three dimensions. In this method, all sensors are built onto the mouthpiece and the sensing is completed in the oral cavity. It does not require the fixation of a large-scale device to the head or of a jig to the teeth, unlike existing mandibular movement tracking devices. These novel features are expected to increase the accessibility of routine measurements of natural jaw movement, unrestricted by an individual's physiological movement and posture.

Mechanical analysis of factors affecting clear aligner removability.

It is difficult to control corrective forces in orthodontic treatment with clear aligners. The grip of aligners on teeth is important to ensure accurate corrective forces from aligners. This study aimed to measure the gripping force of aligners under various conditions to clarify factors that influence it. We created aligners with different attachment morphologies and placement sites and different margin lengths. We developed a device to measure the mechanics involved in the removal of these aligners. The gripping force was evaluated at five different aligner removal sites on the teeth. We found that the gripping force of the aligner was the weakest on the lingual side of the first molar and strongest on the labial side of the central incisors and that the attachment morphology and placement sites affected the gripping force of aligners.

Methods in Genetic Analysis for Evaluation Mandibular Shape and Size Variations in Human Mandible.

ABSTRACT: The human mandible has been investigated from both clinical and evolutionary perspectives. Recent advances in genome science have identified the genetic regulation of human mandibular shape and size. Identification of genes that regulate mandibular shape and size would not only enhance our understanding of the mechanisms of mandibular growth and development but also help define a strategy to prevent mandibular dysplasia. This review provides a comprehensive summary of why and how the mandible was evaluated in the human mandible genome study. The variation in human mandibular shape and size has been progressively clarified, not only by focusing on the mandible alone but also by using extremely diverse approaches. The methods of data acquisition for evaluating human mandibular shape and size variation are well established. Furthermore, this review explains how to proceed with future research.

Development of a new evaluation method for orthodontic forces generated in individual patients.

Numerous experimental studies have examined how much orthodontic force is needed to move teeth more smoothly; however, no reports have examined this clinically in individual, living subjects. We aimed to develop a method for quantifying the force exerted on individual teeth by an orthodontic wire to measure how loads placed on crowded teeth change dynamically over time. Accordingly, we fabricated a series of dental casts of patients undergoing orthodontic treatment (using optical impressions and a three-dimensional printer), fitted these models with nickel-titanium wire, and subjected them to bending load tests. During leveling, nickel-titanium wire is generally considered to exert a weak force due to its low elastic modulus, with a weak orthodontic force applied over a long period of time due to its superelasticity; however, we found that the actual energy exerted by nickel-titanium wire is also largely affected by other factors (e.g., amount of crowding).

Orthognathic surgery induces genomewide changes longitudinally in DNA methylation in saliva.

OBJECTIVE: Orthognathic surgery dramatically changes morphology of the maxillofacial deformity and improves the malocclusion morphologically and functionally. We investigated the influence of orthognathic surgery on genomewide DNA methylation in saliva. METHODS: Saliva was obtained from nine patients undergoing orthognathic surgery and two healthy reference individuals before and 3 months after orthognathic surgery. Genomewide DNA methylation profiling of saliva (341,482 CpG dinucleotides) was conducted using Infinium HumanMethylation450 BeadChips. RESULTS: Comparison between pre- and postsurgery saliva samples revealed significant changes in DNA methylation patterns at 2,381 CpG sites (p < 0.01) with suggestive significance. The differentially methylated probe sets were significantly associated with the cancer pathway (p = 2.8 × 10-7 ; a false discovery rate q-value = 3.7 × 10-4 ) and PI3K-Akt signalling pathway (p = 2.4 × 10-5 ; a false discovery rate q-value = 3.1 × 10-2 ). CONCLUSION: Pathway enrichment analysis of genes with suggestive significance demonstrated that altered DNA methylation in saliva of patients undergoing orthognathic surgery, possibly as a response to surgical stress or bone injury. Further studies with a large sample size and long-term observation are needed to validate the phenomena identified in this study.

Association between the FGFR1 rs13317 single nucleotide polymorphism and orbitale-nasion depth based on cephalometric images.

The fibroblast growth factor receptor 1 (FGFR1) gene plays an important role in craniofacial morphogenesis. In our previous study, an association between FGFR1 single nucleotide polymorphisms (SNPs) and craniofacial morphology was demonstrated in Japanese and Korean subjects. The present study aimed to evaluate the relationship between a common FGFR1 SNP (rs13317) with craniofacial morphology, increasing the number of measurements and examining Egyptian subjects (n = 191) in addition to the Japanese (n = 211) and Korean (n = 226) subjects. Genotyping for rs13317 was performed using the TaqMan assay, and its associations with 81 craniofacial measurements derived from lateral and posteroanterior cephalograms were analyzed by multiple regression analysis controlling sex and facial size. The results from each of the populations were then statistically combined. In the Egyptian subjects, rs13317 was significantly associated with the nasion-orbitale depth (P = 0.00040), and a suggestive association was also observed in the Japanese (P = 0.037) and Korean subjects (P = 0.045). The combined analysis revealed that only the nasion-orbitale depth showed a significant association (P = 0.000062) and that several measurements showed a suggestive association. Our results strongly indicate that rs13317 is associated with a smaller depth between the nasion and orbitale, representing a relative protrusion of the cheekbones and retrusion of the nasal root. A similar characteristic is also observed in individuals with Pfeiffer syndrome, which is caused by a dysfunctional FGFR1 mutation.

Interferon regulatory factor 6 variants affect nasolabial morphology in East Asian populations.

OBJECTIVE: The interferon regulatory factor 6 gene (IRF6) is one of the most conspicuous genes among a large number of candidate risk genes for non-syndromic cleft lip with or without cleft palate, which is considered to be a multifactorial defect. Variants of IRF6 are also suggested to affect normal craniofacial variations, especially in the area of the nose and the upper lip. In the present study, we used lateral cephalograms to establish the relationship between IRF6 and sagittal nasolabial morphology in healthy East Asian subjects. DESIGN: Genomic DNA was extracted from 215 Japanese and 226 Korean individuals, and genotyped for five IRF6 single nucleotide polymorphisms (SNPs): rs17389541, rs642961, rs2013162, rs2235371, and rs7802. These SNPs were tested by multiple regression analyses for their association with craniofacial measurements obtained from lateral cephalometrics. RESULTS: We detected a significant association between the derived variants, rs2013162 and rs2235371 and the distances between a facial bone plane indicated by distance from Nasion and Point A (NA plane) to soft tissue landmarks; the Subalare (NA-Sbal) and the Subnasale (NA-Sn) in the sagittal plane. CONCLUSION: Our results indicate that IRF6 variants play an important role in the normal range of variation in nasolabial soft-tissue morphology.

Orthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams-Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the Age of 5 to 24 Years.

Williams-Beuren syndrome (WBS) is a rare multisystem disorder caused by a hemizygous deletion of the elastin gene on chromosome 7q11.23. WBS patients have characteristic skeletal features and dental anomalies accompanied by mental retardation, a friendly outgoing personality, and mild to moderate intellectual disability or learning problems. In this case report, we present the combined orthodontic and surgical treatment of a WBS patient with an isolated cleft palate through a long-term follow-up from the age of 5 to 24 years. During the period of active treatment, comprehensive orthodontic treatment combined with maxillary anterior segmental distraction osteogenesis and prosthetic treatment using dental implants were effective in dramatically improving the patient's malocclusion. The patient's mental abilities and the cooperation shown by the patient and her family were crucial for the success of this complex and long-term treatment course.

Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing.

Tooth agenesis is described as the absence of one or more teeth. It is caused by a failure in tooth development and is one of the most common human developmental anomalies. We herein report genomic analyses of selective mandibular incisor agenesis (SMIA) using exome sequencing. Two Japanese families with SMIA were subjected to exome sequencing, and family with sequence similarity 65 member A (FAM65), nuclear factor of activated T-cells 3 (NFATC3) and cadherin-related 23 gene (CDH23) were detected. In the follow-up study, 51 Japanese and 32 Korean sporadic patients with SMIA were subjected to exome analyses, and 18 reported variants in PAX9, AXIN2, EDA, EDAR, WNT10A, BMP2 and GREM2 and 27 variants of FAM65, NFATC3 and CDH23 were found in 38 patients. Our comprehensive genetic study of SMIA will pave the way for a full understanding of the genetic etiology of SMIA and provide targets for treatment.

Whole-exome sequencing analysis of supernumerary teeth occurrence in Japanese individuals.

A common disorder of human dentition is the existence of supernumerary teeth. Impacted supernumerary teeth occur most frequently in the maxillary incisor area and are termed mesiodens. We conducted whole-exome sequencing of non-syndromic Japanese individuals possessing supernumerary teeth to identify genes and/or loci involved in the pathogenesis of the condition.

Contribution of FGFR1 Variants to Craniofacial Variations in East Asians.

FGFR1 plays an important role in the development of the nervous system as well as the regulation of the skeletal development and bone homeostasis. Mutations in FGFR1 genes affect skull development, specifically suture and synchondrosis, resulting in craniosynostosis and facial abnormalities. We examined subjects with normal skull morphology for genetic polymorphisms that might be associated with normal craniofacial variations. Genomic DNA was obtained from 216 Japanese and 227 Korean subjects. Four FGFR1 SNPs, namely, rs881301, rs6996321, rs4647905, and rs13317, were genotyped. These SNPs were tested for association with craniofacial measurements obtained from lateral and posteroanterior cephalometries, in which principle component analysis was performed to compress the data of the craniofacial measurements. We observed that SNPs rs13317 and rs6996321 were correlated with the overall head size and midfacial development, indicating that FGFR1 SNPs played crucial roles in the normal variation of human craniofacial morphology. Subjects with the derived alleles of SNPs rs13317 and rs6996321 had a small face and a facial pattern associated with a retruded midface and relatively wide-set eyes. These facial features were similar to but were milder than those of individuals with Pfeiffer syndrome, which is caused by a dysfunctional mutation in FGFR1.

The role of polymorphisms associated with early tooth eruption in dental and occlusal traits in East Asian populations.

OBJECTIVE: A recent study suggested that rs6504340, a polymorphism within the homeobox B (HOXB) gene cluster, is associated with the susceptibility for malocclusions in Europeans. The resulting malocclusions require orthodontic treatment. The aim of this study was to investigate the association of rs6504340 and other dentition-implicated polymorphisms with dental and occlusal traits in Korean and Japanese populations. METHODS: The study participants included 223 unrelated Koreans from the Busan area and 256 unrelated Japanese individuals from the Tokyo metropolitan area. DNA samples were extracted from saliva specimens. Genotyping for rs6504340 and four single nucleotide polymorphisms (SNPs) that have been shown to be associated with the timing of first tooth eruption and the number of teeth at 1 year of age (rs10506525, rs1956529, rs9674544, and rs8079702) was performed using TaqMan assays. The Index of Orthodontic Treatment Need (IOTN), overjet, overbite, arch length discrepancy, crown sizes, and length and width of the dental arches were measured. Spearman's correlation coefficients were calculated to evaluate relationships between rs6504340 and these dental/occlusal traits. RESULTS: We evaluated the aesthetic components and dental health components of the IOTN in the Korean and Japanese populations and found that neither rs6504340 nor the other four SNPs showed any association with dental and occlusal traits in these East Asian populations. CONCLUSIONS: These negative results suggest that further research is needed to identify the genetic determinants of malocclusions in order to reach a consensus.

Evaluation of mandibular volume using cone-beam computed tomography and correlation with cephalometric values.

OBJECTIVE: To investigate the association between maxillofacial morphology and mandibular bone volume in patients with skeletal malocclusion. MATERIALS AND METHODS: Subjects were 118 adult Japanese (58 males and 60 females). Skeletal malocclusion was classified, based on cephalometric analysis, into skeletal Classes I (-1° ≤ ANB < 4°), II (ANB ≥ 4°), and III (ANB < -1°). Using cone-beam computed tomography and three-dimensional image analysis software, the dental crowns and mandible were separated, with only the mandible extracted. This was then reconstructed as a three-dimensional model, from which the mandibular volume was measured. RESULTS: No significant difference in mandibular volume was noted among skeletal Classes I, II, and III, nor was there any significant correlation between mandibular volume and the ANB, SNB, or mandibular plane angles. There was occasional and limited correlation between mandible volume and gonial angle and certain cephalometric distance parameters. CONCLUSION: We conclude that proper understanding of the three-dimensional maxillofacial morphology requires not only cephalometric radiographic tracings but also high-resolution analysis of the mandibular area, width, and volume.

A genome-wide association study of third molar agenesis in Japanese and Korean populations.

Tooth agenesis is the most common developmental anomaly of human dentition, occurring most often in the third molar (wisdom tooth). It is affected by genetic variation, so this study aimed to identify susceptibility genes associated with third molar agenesis. Examination of panoramic radiographs and medical history about third molar extraction were used to diagnose third molar agenesis. We then conducted a genome-wide association study of 149 cases with at least one-third molar agenesis and 338 controls from Japan and Korea using the Illumina HumanOmniExpress BeadChip. After rigorous quality-control filtering, approximately 550 000 single-nucleotide polymorphisms (SNPs) were analyzed in association tests with the status. We identified three SNPs showing evidence of association at P<1 × 10(-5) and 69 SNPs showing evidence of association at P<1 × 10(-4). SNP rs1469622, which maps to an intron of THSD7B (thrombospondin, type I, domain containing 7B) on chromosome 2, showed the strongest association (combined odds ratio=1.88, 95% confidence interval=1.43-2.47, P=7.5 × 10(-6)). The identified SNPs may be considered candidates for future replication studies in independent samples.

Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations.

Studies on the heredity of dental characteristics in humans have indicated that the variance in many dental traits results from genetic variation. However, the genetic factors that influence commonly occurring dental variants are poorly understood. Paired domain box 9 (PAX9) codes a transcription factor that is important in tooth development. We investigated whether PAX9 polymorphisms are associated with normal variations in tooth agenesis and morphology. The study subjects were 273 Japanese and 223 Korean adults. Single-nucleotide polymorphisms (SNPs) in PAX9 (rs2295222, rs4904155, rs2073244, rs12881240 and rs4904210) were genotyped, and third molar agenesis and mesiodistal and buccolingual diameters were measured. We found that four of the five SNPs were significantly associated with the crown size. However, no SNP was associated with third molar agenesis. In additional analyses on non-metric dental traits, we found significant associations of PAX9 SNPs with shoveling of upper first incisors. In summary, common variants in PAX9 contributed to morphological variation in permanent teeth in humans.