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1.
Hum Genome Var ; 11(1): 21, 2024 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-38755172

RESUMEN

Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities.

2.
Glycobiology ; 34(5)2024 04 19.
Artículo en Inglés | MEDLINE | ID: mdl-38438145

RESUMEN

This review delves into the roles of glycosaminoglycans (GAGs), integral components of proteoglycans, in tooth development. Proteoglycans consist of a core protein linked to GAG chains, comprised of repeating disaccharide units. GAGs are classified into several types, such as hyaluronic acid, heparan sulfate, chondroitin sulfate, dermatan sulfate, and keratan sulfate. Functioning as critical macromolecular components within the dental basement membrane, these GAGs facilitate cell adhesion and aggregation, and play key roles in regulating cell proliferation and differentiation, thereby significantly influencing tooth morphogenesis. Notably, our recent research has identified the hyaluronan-degrading enzyme Transmembrane protein 2 (Tmem2) and we have conducted functional analyses using mouse models. These studies have unveiled the essential role of Tmem2-mediated hyaluronan degradation and its involvement in hyaluronan-mediated cell adhesion during tooth formation. This review provides a comprehensive summary of the current understanding of GAG functions in tooth development, integrating insights from recent research, and discusses future directions in this field.


Asunto(s)
Glicosaminoglicanos , Ácido Hialurónico , Ratones , Animales , Glicosaminoglicanos/metabolismo , Proteoglicanos/metabolismo , Sulfato de Queratano/metabolismo , Sulfatos de Condroitina/metabolismo , Heparitina Sulfato/metabolismo , Odontogénesis , Dermatán Sulfato
3.
Eur J Orthod ; 46(1)2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-37847809

RESUMEN

BACKGROUND: Masticatory activity affects the morphology of the maxillo-mandibular complex, however, its influence on the cranial base remains to be elucidated. The recent integration of quantitative morphometric analysis with 3D imaging enabled a comprehensive and high-resolution morphological characterization of the craniofacial complex. We aimed to investigate the influence of masticatory activity on the morphology of the growing cranial base by three-dimensional (3D) geometric morphometric approach using micro-CT. METHODS: The micro-CT data was reanalyzed to illustrate the 3D shape of the cranial base, and wireframe models were generated by connecting landmarks on the images. In the original study, mice were fed a soft diet (SD) of powdered pellets or a conventional hard diet (HD) for 6 weeks from 3 to 9 weeks of age, immediately after weaning. A principal component (PC) analysis analyzed shape variations and assessed their significance, while canonical variate (CV) analysis facilitated the comparison and differentiation of groups based on shape, unveiling meaningful shape distinctions. RESULTS: Three PCs were extracted that significantly separated the SD and HD groups among those explaining variations in shape. These PCs were related to the length of the sphenoid bone, the width of the anterior part of the sphenoid bone, and the length of the cranial base. Furthermore, one CV effectively distinguished SD from HD, and CV analysis showed that the sphenoid was shortened in the length and narrowed at the border of the temporal bone in SD mice. CONCLUSIONS: Masticatory loading affects the skeletal development of the cranial base. The morphology of the sphenoid bone was affected in both the sagittal and transverse axes.


Asunto(s)
Mandíbula , Base del Cráneo , Ratones , Animales , Base del Cráneo/diagnóstico por imagen , Mandíbula/diagnóstico por imagen , Microtomografía por Rayos X , Dieta , Imagenología Tridimensional
4.
Front Cell Dev Biol ; 11: 1271455, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37954207

RESUMEN

Heparan sulfate proteoglycans (HSPGs) surround the surface of odontoblasts, and their modification affects their affinity for Wnt ligands. This study proposes applying Matching Transformation System® (MA-T), a novel chlorinated oxidant, to enhance dentinogenesis. MA-T treatment in odontoblasts decreased sulfation of HSPG and upregulated the expression of dentin sialophosphoprotein (Dspp) and Dentin Matrix Protein 1 (Dmp1) via activation of canonical Wnt signaling in vitro. Ex vivo application of MA-T also enhanced dentin matrix formation in developing tooth explants. Reanalysis of a public single-cell RNA-seq dataset revealed significant Wnt activity in the odontoblast population, with enrichment for Wnt10a and Wnt6. Silencing assays showed that Wnt10a and Wnt6 were redundant in inducing Dspp and Dmp1 mRNA expression. These Wnt ligands' expression was upregulated by MA-T treatment, and TCF/LEF binding sites are present in their promoters. Furthermore, the Wnt inhibitors Notum and Dkk1 were enriched in odontoblasts, and their expression was also upregulated by MA-T treatment, together suggesting autonomous maintenance of Wnt signaling in odontoblasts. This study provides evidence that MA-T activates dentinogenesis by modifying HSPG and through subsequent activation of Wnt signaling.

5.
Dis Model Mech ; 16(10)2023 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-37846594

RESUMEN

Cleft palate has a multifactorial etiology. In palatal fusion, the contacting medial edge epithelium (MEE) forms the epithelial seam, which is subsequently removed with the reduction of p63. Failure in this process results in a cleft palate. We herein report the involvement of janus kinase 2 (JAK2)/signal transducer and activator of transcription 3 (STAT3) signaling in palatal fusion and that folic acid rescues the fusing defect by reactivating JAK2/STAT3. In closure of bilateral palatal shelves, STAT3 phosphorylation was activated at the fusing MEE and mesenchyme underlying the MEE. JAK2 inhibition by AG490 inhibited STAT3 phosphorylation and resulted in palatal fusion failure without removal of the epithelial seam, in which p63 and keratin 17 (K17) periderm markers were retained. Folic acid application restored STAT3 phosphorylation in AG490-treated palatal explants and rescued the fusion defect, in which the p63- and K17-positive epithelial seam were removed. The AG490-induced palatal defect was also rescued in p63 haploinsufficient explants. These findings suggest that JAK2/STAT3 signaling is involved in palatal fusion by suppressing p63 expression in MEE and that folate restores the fusion defect by reactivating JAK2/STAT3.


Asunto(s)
Fisura del Paladar , Humanos , Fisura del Paladar/metabolismo , Factor de Transcripción STAT3/metabolismo , Janus Quinasa 2/metabolismo , Hueso Paladar/metabolismo , Ácido Fólico
6.
Cleft Palate Craniofac J ; : 10556656231201834, 2023 Sep 21.
Artículo en Inglés | MEDLINE | ID: mdl-37735913

RESUMEN

Sotos syndrome is a genetic disorder characterized by distinct craniofacial features, overgrowth in childhood, and impaired intellectual development. We herein report the successful orthodontic treatment of a 14-year-old boy with Sotos syndrome caused by a heterozygous mutation in the NSD1 gene. He showed severe hypodontia, impaction of the maxillary second molars and a skeletal Class III jaw-base relationship. Orthodontic management, including space control by protraction of the maxillary first molars and traction of the impacted molars, was performed using fixed appliances and miniscrews. As a result, acceptable occlusion was obtained without any discernible relapse 18 months postretention.

7.
Sci Rep ; 13(1): 13937, 2023 08 25.
Artículo en Inglés | MEDLINE | ID: mdl-37626204

RESUMEN

(1) To establish normative data for three-dimensional (3D) measurements of the upper airway in young Japanese adults, and (2) to investigate sex-related differences in linear and volumetric measurements, as well as shape. This study employed cone-beam computed tomography (CBCT) images of 56 Japanese young adults preselected from among 1000 patients, so that samples matched a historic 2D cephalometric cohort with normal occlusion using propensity score matching. Three-dimensional models of the oropharynx and hypopharynx were reconstructed from CBCT images and their volumes were calculated. We defined 20 landmarks on the surface of the 3D model and performed seven linear measurements between them. The mean and standard deviation of the linear measurements were calculated as the normative data for each sex as well as the volumes. Sex-related differences were analyzed using t-test (p < 0.05). Principal component discriminant analysis of the coordinate values of the landmarks was also performed to examine sex differences in shape. The normative ranges of the 3D measurements of the oropharynx and hypopharynx were determined according to sex. Sex-related differences in the measurement results were observed in hypopharyngeal length but not in volume. The hypopharynx length in males was significantly longer than that in females. The discriminant analysis showed that males tended to show longer and straight shapes, while females showed inversed triangular shapes from the frontal view. This result will allow clinicians to evaluate how patient airway characteristics differ from the normative 3D morphology of the upper airway.


Asunto(s)
Pueblos del Este de Asia , Femenino , Humanos , Masculino , Adulto Joven , Hipofaringe/diagnóstico por imagen , Volumen de Ventilación Pulmonar , Tráquea , Factores Sexuales , Tomografía Computarizada de Haz Cónico , Imagenología Tridimensional
8.
Angle Orthod ; 93(6): 736-746, 2023 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-37302140

RESUMEN

OBJECTIVE: This case report describes the successful treatment of a patient with Crouzon syndrome with severe midfacial deficiency and malocclusion, including reverse overjet. MATERIALS AND METHODS: In Phase I treatment, maxillary lateral expansion and protraction were performed. In Phase II treatment, after lateral expansion of the maxilla and leveling of the maxillary and mandibular dentition, an orthognathic approach including simultaneous Le Fort I and III osteotomies with distraction osteogenesis (DO) was used to improve the midfacial deficiency. RESULTS: After DO, 12.0 mm of the medial maxillary buttress and 9.0 mm of maxillary (point A) advancement were achieved, which resulted in a favorable facial profile and stable occlusion. CONCLUSION: Even after 8 years of retention, the patient's profile and occlusion were preserved without any significant relapse.


Asunto(s)
Disostosis Craneofacial , Osteogénesis por Distracción , Humanos , Estudios de Seguimiento , Cefalometría/métodos , Osteotomía Le Fort/métodos , Disostosis Craneofacial/cirugía , Maxilar/cirugía
9.
Am J Med Genet A ; 191(7): 1984-1989, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37141439

RESUMEN

Craniofacial defects are one of the most frequent phenotypes in syndromic diseases. More than 30% of syndromic diseases are associated with craniofacial defects, which are important for the precise diagnosis of systemic diseases. Special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome (SAS) is a rare syndromic disease associated with a wide variety of phenotypes, including intellectual disability and craniofacial defects. Among them, dental anomalies are the most frequently observed phenotype and thus becomes an important diagnostic criterion for SAS. In this report, we demonstrate three Japanese cases of genetically diagnosed SAS with detailed craniofacial phenotypes. The cases showed multiple dental problems, which have been previously reported to be linked to SAS, including abnormal crown morphologies and pulp stones. One case showed a characteristic enamel pearl at the root furcation. These phenotypes add new insights for differentiating SAS from other disorders.


Asunto(s)
Discapacidad Intelectual , Proteínas de Unión a la Región de Fijación a la Matriz , Humanos , Pueblos del Este de Asia , Síndrome , Fenotipo , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Proteínas de Unión a la Región de Fijación a la Matriz/genética , Factores de Transcripción/genética
10.
Am J Orthod Dentofacial Orthop ; 163(4): e93-e105, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36621352

RESUMEN

INTRODUCTION: The morphology of the human face varies broadly, with genetic and environmental factors determining these variations. Examining variations in the 3-dimensional (3D) craniomandibular morphology and identifying related factors (eg, sex differences) are important in orthodontic clinics. This study observed shape variations in the 3D facial morphology of Japanese adults showing skeletal Class 1 malocclusion and examined the association of sexual dimorphism with shape variations. METHODS: Sixty cone-beam computed tomography images of Japanese adults (30 males and 30 females) with skeletal Class I malocclusion were employed. In each cone-beam computed tomography image, wire mesh fitting was conducted as previously described. A principal component (PC) analysis after Procrustes registration and the PC clustering method was conducted to observe the shape variations. A PC regression analysis was conducted to determine the sexual morphologic characteristics. RESULTS: Nine PCs depicting 62% of the morphology were determined. Four typical phenotypes were found, mainly related to mandibular protrusion (PC1) and the vertical divergence of the face (PC2). PCs related to sex determination were PC3 (robustness of the mandibular angle in males), PC5 (greater size and shape of the coronoid and mastoid processes in males), and PC7 (greater maxillary width in males), accounting for 16% of total variations. CONCLUSIONS: The major shape variations in skeletal Class 1 subjects were related to nonsexual dimorphic characteristics (ie, mandibular protrusion and facial divergence). Sexual dimorphic characteristics were evaluated in detail and accounted for 16% of total morphologic variations.


Asunto(s)
Maloclusión Clase I de Angle , Caracteres Sexuales , Humanos , Adulto , Masculino , Femenino , Pueblos del Este de Asia , Cefalometría/métodos , Mandíbula/diagnóstico por imagen , Mandíbula/anatomía & histología , Tomografía Computarizada de Haz Cónico
12.
Cleft Palate Craniofac J ; 60(12): 1556-1564, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-35748725

RESUMEN

To determine dental and palatal morphology in children with cleft lip and/or palate (CL/P) and identify morphological prognostic factors for orthognathic surgery (OGS).Retrospective cohort study.Orthodontic department of a university dental hospital.This study included 80 patients with bilateral and unilateral CL/P who had lateral cephalograms at the ages of 7 (T1), 15 (T2) years, and a dental plaster model at T1.Plaster models at T1 were scanned with a three-dimensional (3D) scanner. Morphological features were extracted from 3D models with geometric morphometrics software as principal components (PCs). The combinations of the PCs and other predictive factors (ie, the No. of clefts in the lip and alveolus, the palatal repair method, sex, cephalometric variables at T1, and the No. of missing teeth) were examined by logistic regression to determine the predictability for OGS. The need for OGS and skeletal and dental discrepancies at T2 were examined as outcomes.Shrinkage of the palate, including vertical shallowing and transverse narrowing of the posterior maxilla and cleft-side asymmetry of the anterior maxilla at T1, as well as the No. of clefts in the lip and alveolus, the palatal repair method, male sex, several cephalometric variables for the sagittal and vertical dimensions, and the No. of missing teeth, were found to be predictive factors for OGS.Morphological prognostic factors for OGS in children with CL/P were determined.


Asunto(s)
Labio Leporino , Fisura del Paladar , Cirugía Ortognática , Humanos , Masculino , Niño , Labio Leporino/diagnóstico por imagen , Labio Leporino/cirugía , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/cirugía , Estudios Retrospectivos , Pronóstico , Dentición , Maxilar/diagnóstico por imagen , Maxilar/cirugía , Cefalometría
13.
Cleft Palate Craniofac J ; 60(12): 1546-1555, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-35861791

RESUMEN

OBJECTIVE: To examine the relationship between stigma experience related to facial appearance in Japanese youths with cleft lip and/or palate (CL/P) and their self-perception. DESIGN: A cross-sectional study. PARTICIPANTS: Sixty-nine Japanese youths with CL/P (11-18 years old). OUTCOME MEASURES: The participants' stigma experience in relation to facial appearance (measured with 7 single contextual scale items) and their self-perception (measured with 5 domain scores based on 30 perceptual items) were assessed using the Japanese version of the Youth Quality of Life Instrument-Facial Differences Module. Participants were categorized into high and low self-perception subgroups with a threshold of 1 standard deviation for each domain. The frequency of stigma experiences was compared between the following 2 subgroups: age, sex, cleft palate only versus other cleft, and high versus low self-perception. Correlations between the responses regarding stigma and all domain scores were examined. RESULTS: Sixteen percent of the participants reported experiencing stigma. Hearing others say something about their face occurred significantly more frequently in youths 15 to 18 years of age than in youths 11 to 14 years of age. Stigma frequency was not found to differ by sex or cleft type. Stigma experiences were significantly more frequent for youth with higher scores across negative self-perception domains as well as higher coping skills. Significant correlations were identified between responses regarding stigma items and all domain scores (r = 0.27-0.63, p < .05). CONCLUSIONS: It was found that stigma experiences related to facial appearance may influence negative self-perceptions of facial differences as well as higher coping skills among Japanese youths with CL/P.


Asunto(s)
Labio Leporino , Fisura del Paladar , Apariencia Física , Autoimagen , Estigma Social , Adolescente , Niño , Humanos , Labio Leporino/etnología , Labio Leporino/psicología , Fisura del Paladar/etnología , Fisura del Paladar/psicología , Estudios Transversales , Pueblos del Este de Asia/psicología , Calidad de Vida , Cara , Japón , Apariencia Física/etnología , Adaptación Psicológica
14.
PLoS Genet ; 18(7): e1009765, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35839257

RESUMEN

Hyaluronan (HA) is a major extracellular matrix component whose tissue levels are dynamically regulated during embryonic development. Although the synthesis of HA has been shown to exert a substantial influence on embryonic morphogenesis, the functional importance of the catabolic aspect of HA turnover is poorly understood. Here, we demonstrate that the transmembrane hyaluronidase TMEM2 plays an essential role in neural crest development and the morphogenesis of neural crest derivatives, as evidenced by the presence of severe craniofacial abnormalities in Wnt1-Cre-mediated Tmem2 knockout (Tmem2CKO) mice. Neural crest cells (NCCs) are a migratory population of cells that gives rise to diverse cell lineages, including the craniofacial complex, the peripheral nervous system, and part of the heart. Analysis of Tmem2 expression during NCC formation and migration reveals that Tmem2 is expressed at the site of NCC delamination and in emigrating Sox9-positive NCCs. In Tmem2CKO embryos, the number of NCCs emigrating from the neural tube is greatly reduced. Furthermore, linage tracing reveals that the number of NCCs traversing the ventral migration pathway and the number of post-migratory neural crest derivatives are both significantly reduced in a Tmem2CKO background. In vitro studies using Tmem2-depleted mouse O9-1 neural crest cells demonstrate that Tmem2 expression is essential for the ability of these cells to form focal adhesions on and to migrate into HA-containing substrates. Additionally, we show that Tmem2-deficient NCCs exhibit increased apoptotic cell death in NCC-derived tissues, an observation that is corroborated by in vitro experiments using O9-1 cells. Collectively, our data demonstrate that TMEM2-mediated HA degradation plays an essential role in normal neural crest development. This study reveals the hitherto unrecognized functional importance of HA degradation in embryonic development and highlights the pivotal role of Tmem2 in the developmental process.


Asunto(s)
Hialuronoglucosaminidasa , Cresta Neural , Animales , Diferenciación Celular , Movimiento Celular/genética , Proteínas de la Membrana/genética , Ratones , Ratones Noqueados , Organogénesis
15.
J Oral Biosci ; 64(2): 159-164, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35231627

RESUMEN

BACKGROUND: The development of dentition begins in the embryonic oral cavity and progresses in the branchial arches and alveolar bone. Continuous cellular and molecular crosstalk occurs during crown formation, after which the tooth germ begins to migrate apically through the alveolar process into the oral cavity. It eventually comes in contact with its antagonist in the contralateral jaw to establish functional occlusion. Any defect in either step can result in delayed tooth development, the spectrum of which varies from a congenitally missing tooth to an impacted tooth (infraocclusion) with an eruption problem, both of which can impair oral function. HIGHLIGHT: Congenitally missing teeth or eruption problems may result from genetic mutations. Several different mutations have been identified, each causing a distinct phenotype. Thus, it is imperative that medical providers understand the fundamentals of these genetic principles that govern such dental diseases. CONCLUSION: In this review, we focus on several diseases, including congenitally missing teeth and tooth eruption problems. We review these diseases with aspect to their association with a particular syndrome, as well as independently in a non-syndromic capacity. We also review previously identified genetic mutations and discuss the possible mechanisms that cause individual phenotypes by analyzing previous investigations. We also discuss future prospects of how genetic diagnosis and precision medicine could impact the clinical environment in the field of dentistry. ETHICAL APPROVAL: Present study has been carried out in accordance with The Code of Ethics of the World Medical Association and approved by Institutional Review Board of Osaka University Graduate School of Dentistry.


Asunto(s)
Dentición , Diente , Coronas , Oclusión Dental , Humanos , Erupción Dental/genética
16.
J Craniomaxillofac Surg ; 50(4): 353-363, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35246368

RESUMEN

This study aimed to establish a three-dimensional (3D) cephalometric analysis of craniofacial morphology and discuss its theoretical usefulness in orthognathic patients. Cone-beam computed tomography (CBCT) images of Japanese subjects with skeletal Class I malocclusion before treatment were selected from among 1000 patients so that samples matched a historic 2D cephalometric cohort with normal occlusion using propensity score matching. In each CBCT image, 67 3D measurements were calculated based on manually identified landmarks. The mean and standard deviation of the measurements were calculated and used as the normative range for each sex. To confirm the usefulness of the 3D measurements, pre- and post-treatment CT data of nine jaw deformity patients who underwent orthognathic surgery with two-dimensional planning (2DP) in the past were used. Pre- and post-treatment CT values were evaluated with a paired t-test as well as a Z-score, which was calculated using the aforementioned normative range, and then categorized into five groups ("deteriorated", "no improvement", "over-treatment", "no change", "improvement") with -1 < Z-score < 1 considered normal. Fifty-six patients were matched to normal skeletal 1 subjects. The normative range of 67 items indicating 3D craniofacial morphology of the Japanese was calculated. Postoperatively, the horizontal position of the pogonion to the mid-sagittal plane significantly decreased (p = 0.043) and "improved"; however, the ramus axis on the right side significantly increased (p = 0.005) and "deteriorated". Maxillary yaw and the horizontal position of the gonion also tended to "deteriorated". The normative range for the 3D cephalometric analysis in Japanese has been established. Given findings of deteriorated maxillomandibular yawing after surgery when using conventional 2DP, 3D cephalometric measurements should be used when planning jaw positions after surgery for orthognathic patients.


Asunto(s)
Cirugía Ortognática , Procedimientos Quirúrgicos Ortognáticos , Adulto , Cefalometría/métodos , Tomografía Computarizada de Haz Cónico/métodos , Humanos , Imagenología Tridimensional/métodos , Japón , Mandíbula/diagnóstico por imagen , Mandíbula/cirugía , Maxilar/diagnóstico por imagen , Maxilar/cirugía , Procedimientos Quirúrgicos Ortognáticos/métodos , Estudios Retrospectivos
17.
J Esthet Restor Dent ; 34(4): 583-591, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35182447

RESUMEN

OBJECTIVE: This case report describes the orthodontic and prosthetic rehabilitation of a patient with resorption of the roots of the maxillary central incisors due to the ectopic maxillary canines. CLINICAL CONSIDERATIONS: A 16-year-old woman presented with severe resorption of the roots of the maxillary central incisors due to the ectopic maxillary canines. The impacted canines were orthodontically tracted with a lingual arch-supporting temporary central incisors and vertical elastics, and, undesirable root proximity was later corrected by moving the canines distally 1.5 mm apart. Gingival replacement cords were placed into the gingival sulcus of the canines, and tooth preparation was performed along with rotary gingival curettage of the interdental papilla. Convex form was provided for the mesial and labio-distal subgingival contour of the restorations. CONCLUSIONS: The creeping attachment of the interdental papilla was successfully achieved by the orthodontic arrangement of interdental distance and the prosthetic stimulus via the retraction cord, rotary curettage, and convex mesial subgingival contours. In addition, selective retraction of the labio-distal gingiva by overcontoured restorations moved the gingival zenith position (GZP) distally. Finally, the canine crown morphology and gingival level mimicked the central incisors. CLINICAL SIGNIFICANCE: This clinical report introduces a treatment workflow of to recover the esthetic disturbance due to severe root resorption of the maxillary central incisors associated with impacted maxillary canines. The present orthodontic and prosthetic procedure can improve both hard and soft tissue esthetics and could be used in similar cases, such as malformed teeth and tooth autotransplantation or transposition with disturbances in the interdental papilla height or the GZP.


Asunto(s)
Resorción Radicular , Diente Impactado , Adolescente , Diente Canino , Humanos , Incisivo/anatomía & histología , Maxilar , Resorción Radicular/terapia , Diente Impactado/complicaciones , Diente Impactado/terapia
18.
Eur J Orthod ; 44(4): 436-444, 2022 08 16.
Artículo en Inglés | MEDLINE | ID: mdl-35050343

RESUMEN

AIM: This study was aimed to evaluate two artificial intelligence (AI) systems that created a prioritized problem list and treatment plan, and examine whether the performance of the aforementioned systems was equivalent to orthodontists. MATERIALS AND METHODS: A total of 967 consecutive cases [800: training; 67: validation; 100: evaluation (40: randomly selected for the clinical evaluation)] were used. We used a stored document that describes (1) the patient's clinical information, (2) the prioritized list, and (3) a treatment strategy without digital tooth movement. Sentences of (1) were vectorized according to the bag of words method (V); sentences of (2) and (3) were relabelled with 423 and 330 labels, respectively. AI systems that output labels for the prioritized list (subtask 1) and treatment planning (subtask 2) based on the vectors V were developed using a support vector machine and self-attention network, respectively, while the system was trained to improve precision and recall. Clinical evaluations were conducted by four orthodontists (no faculty or residents; peer group) in two sessions: in the first session, peer group and the developed AI systems created problem lists and treatment plans; in the second session, two of the peer group (not AI) evaluated these lists and plans, including the lists and plans of the AIs, by scoring them using 4-point scales [unacceptable (1) to ideal (4)]. Scores were compared among the system and peer group (Wilcoxon signed-rank test, P < 0.05). RESULTS: The precision after system training was 65% and 48% for subtasks 1 and 2 respectively, with recall of 55% and 48%, respectively. The clinical evaluation of the AI system for subtask 1 showed a mid-rank. For subtask 2, the AI system had a significantly lower score than the three panels but the same rank with one panel. CONCLUSIONS: Two AI systems that output a prioritized problem list and create a treatment plan were developed. The clinical system ability of the former system showed a mid-rank in the peer group, and the latter system was almost equivalent to the worst orthodontist.


Asunto(s)
Inteligencia Artificial , Técnicas de Movimiento Dental , Humanos
19.
Dis Model Mech ; 15(2)2022 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-34897389

RESUMEN

Cleft palate is one of the major congenital craniofacial birth defects. The etiology underlying the pathogenesis of cleft palate has yet to be fully elucidated. Dissociation of the medial edge epithelium (MEE) at the contacting region of palatal shelves and subsequent migration or apoptosis of MEE cells is required for proper MEE removal. Ras-responsive element-binding protein 1 (RREB1), a RAS transcriptional effector, has recently been shown to play a crucial role in developmental epithelial-mesenchymal transition (EMT), in which loss of epithelial characteristics is an initial step, during mid-gastrulation of embryonic development. Interestingly, the involvement of RREB1 in cleft palate has been indicated in humans. Here, we demonstrated that pan-Ras inhibitor prevents the dissociation of MEE during murine palatal fusion. Rreb1 is expressed in the palatal epithelium during palatal fusion, and knockdown of Rreb1 in palatal organ culture resulted in palatal fusion defects by inhibiting the dissociation of MEE cells. Our present findings provide evidence that RREB1-mediated Ras signaling is required during palatal fusion. Aberrant RREB1-mediated Ras signaling might be involved in the pathogenesis of cleft palate.


Asunto(s)
Fisura del Paladar , Hueso Paladar , Animales , Fisura del Paladar/genética , Fisura del Paladar/metabolismo , Proteínas de Unión al ADN/metabolismo , Células Epiteliales/metabolismo , Transición Epitelial-Mesenquimal , Epitelio/metabolismo , Femenino , Ratones , Embarazo , Transducción de Señal , Factores de Transcripción/metabolismo
20.
Curr Osteoporos Rep ; 20(1): 120-126, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34931296

RESUMEN

PURPOSE OF REVIEW: The Runx family genes (Runx1, Runx2, Runx3, and Cbfb) are important transcriptional regulators in the development of various tissues. We herein highlight the roles of the Runx family genes in morphogenesis in the craniofacial regions and in the pathogenesis of congenital morphological problems in these regions. RECENT FINDINGS: A recent analysis using conditional Runx mutant animals and a human genetic study identified the novel roles of Runx genes in the development of the tooth, salivary glands, and the palate. In an animal study, Runx1/Cbfb signaling was found to regulate the Lgr5 expression and maintain the stem cells in the dental epithelium in the growing incisors. Aberrant Runx1/Cbfb signaling induced male-specific involution of the convoluted granular cell differentiation of the submandibular gland. In palatogenesis, Runx1/Cbfb signaling regulated the Tgfb3 expression in the fusing palatal epithelium through Stat3 activation. The combination of a human genetic study and a phenotype analysis of mutant animals revealed the various roles of Runx genes in the development of the tooth, palate, and salivary glands. Runx genes have functional redundancy in various tissues, which still hinder the roles of Runx genes in morphogenesis. Future studies may reveal the novel roles of Runx signaling.


Asunto(s)
Subunidad alfa 2 del Factor de Unión al Sitio Principal , Transducción de Señal , Animales , Huesos/metabolismo , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Subunidad alfa 2 del Factor de Unión al Sitio Principal/metabolismo , Humanos , Masculino , Fenotipo , Transducción de Señal/genética
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