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1.
J Pharm Bioallied Sci ; 16(Suppl 1): S125-S129, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38595493

RESUMO

Objectives: This retrospective study aimed to determine the prevalence of congenitally missing mandibular second premolars. Materials and Methods: A total of 1,843 radiographs were collected from five different cities in Palestine. Two experienced dentists independently examined the panoramic radiographs and demographic data (age and gender). Results: Among the 1,843 radiographs, 1,039 were for females (57.37%) and 804 were for males (43.63%); 13 cases had at least one congenitally mandibular second premolar. The prevalence of congenitally missing mandibular second premolars in the study population was 0.7%. There was no significant association between gender and mandibular second premolar agenesis. Unilateral agenesis was more common than bilateral, and the left side had more cases of congenitally missing mandibular second premolars than the right side. Conclusions: The prevalence of congenitally missing mandibular second premolars in this study population was 0.7%, within the range reported in other populations.

2.
Prog Orthod ; 25(1): 12, 2024 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-38523193

RESUMO

BACKGROUND: Mutations in one or multiple genes can lead to hypodontia and its characteristic features. Numerous studies have shown a strong genetic influence on the occurrence of hypodontia, and identified several genes, including AXIN2, EDA, FGF3, FGFR2, FGFR10, WNT10A, MSX1, and PAX9, that are directly associated with dental agenesis and carcinogenesis. The objective of this study was to investigate the occurrence and pattern of tooth agenesis, microdontia, and palatally displaced canine (PDC) in women diagnosed with papillary thyroid cancer (PTC), compared to a control group of women without any malignancy or thyroid disease. MATERIALS AND METHODS: This case-control study was carried at the Department of Orthodontics, School of Dental Medicine University of Zagreb, and Department of Oncology and Nuclear Medicine Sestre Milosrdnice University Hospital Centre. The study involved a clinical examination and evaluation of dental status, panoramic X-ray analysis, and assessment of medical and family history of 116 female patients aged 20-40 with PTC, as well as 424 females in the control group who were of similar age. RESULTS: The prevalence of hypodontia, microdontia, and PDC was statistically higher in women with PTC than in the control group. The prevalence rate of hypodontia was 11.3% in the experimental group and 3.5% in the control group. The experimental group showed a higher occurrence of missing upper lateral incisors, lower left central incisors, and all the third molars (except the upper left) compared to the control group. Women with PTC showed the prevalence of PDC significantly higher than the control group (3.5%, 0.7%, p = 0.002). The probability of hypodontia as a clinical finding increases 2.6 times, and microdontia occurs 7.7 times more frequently in women with PTC. CONCLUSION: Our study suggests a possible link between odontogenesis and PTC. The absence of permanent teeth may increase the likelihood of PTC in women. Leveraging the age-7 orthopantomogram to identify women at high risk for PTC within a critical early detection window could significantly improve oral health outcomes and PTC prognosis through proactive interventions.


Assuntos
Neoplasias da Glândula Tireoide , Anormalidades Dentárias , Feminino , Humanos , Anodontia/epidemiologia , Anodontia/complicações , Estudos de Casos e Controles , Fatores de Risco , Câncer Papilífero da Tireoide/complicações , Neoplasias da Glândula Tireoide/complicações , Anormalidades Dentárias/complicações , Adulto Jovem , Adulto
3.
Medicina (Kaunas) ; 60(3)2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38541149

RESUMO

The gradual movement of a tooth away from the occlusal plane is called infraocclusion or reinclusion. Reincluded teeth are most often deciduous molars, and permanent teeth are less frequently affected. Depending on the level of the infraocclusion, the severity of the disorder is classified as mild, moderate, or severe. The etiology of the phenomenon is not fully known. Tooth submerging can lead to serious complications, such as abnormal position of adjacent teeth, displacement of the bud of the permanent successor, shortening of the dental arch, or developmental disturbances of alveolar process. Early diagnosis of the tooth infraocclusion and regular monitoring of its progression help to avoid serious permanent sequelae. The treatment of reinclusion often involves only observation. However, in some cases, the therapeutic procedure requires interdisciplinary treatment by specialists from various fields of dentistry. This study presents current methods of diagnosis and treatment of patients with submerged teeth.


Assuntos
Dentição Permanente , Má Oclusão , Humanos , Dente Decíduo , Má Oclusão/diagnóstico , Má Oclusão/etiologia , Má Oclusão/terapia , Extração Dentária/efeitos adversos , Mandíbula , Erupção Dentária
4.
Arch Oral Biol ; 162: 105961, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38547646

RESUMO

OBJECTIVE: Dental agenesis data in modern and premodern sub-Saharan Africans are presented by region, West, Central, East, and South, and by sex. Beyond characterizing the anomaly, comparisons are made with other populations and future work is encouraged. The findings should be of use to dental clinicians and anthropologists. METHODS: Agenesis of the UI2, LI1, UP2, LP2, UM3, and LM3 was recorded in 52 discrete samples of mainly skeletal dentitions (n = 2162) from across the subcontinent. After dividing into temporal categories, regional pooling was effected for adequate sample sizes across the vast geographic area. Only adults were included to record M3 status. Analyses included 95% confidence intervals and chi-square comparisons by region and sex. RESULTS: Of 1668 modern individuals 2.3% have UI2-LP2 agenesis (CI 1.6-3.1%). Regional and sex differences are non-significant, though females are most affected. For M3s it is 7.0% (5.7-8.4%), with the Central region sample differing significantly from the East and South. Females again have greater prevalence, with the difference in the West significant. UI2-LP2 agenesis affects 0.6% of 494 premodern individuals (0.1-1.8%), while M3 agenesis is 8.5% (6.1-11.5%). None of these differences are significant. CONCLUSIONS: Rates are toward the low end of global ranges, including 0.0-12.6% for UI2-LP2 from case reports, and 5.3-56.0% for M3 agenesis. With exceptions, generally insignificant inter-region differences imply that rates reasonably represent sub-Saharan peoples overall. Results will be of interest to anthropologists, but those related to risk factors, patterning, and prevalence may assist clinicians in tailoring treatment, while informing patients how this anomaly differs by population ancestry.


Assuntos
Anodontia , Adulto , Humanos , Masculino , Feminino , Prevalência , Anodontia/epidemiologia , Dentição Permanente , Caracteres Sexuais , África Subsaariana/epidemiologia
5.
Healthcare (Basel) ; 12(5)2024 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-38470652

RESUMO

BACKGROUND: Hypodontia represents a notable clinical and public health concern. OBJECTIVE: To assess the prevalence of congenitally missing permanent teeth in a sample of orthodontic/dental patients of Caucasian origin originating from the Greek island of Lesvos. MATERIALS AND METHODS: Panoramic X-rays from 621 children and adolescents, aged 9 to 16 years (average age 12.5 years), 521 seeking orthodontic care (orthodontic group) and 100 seeking dental care (non-orthodontic group) were examined to identify congenitally missing permanent teeth. RESULTS: The orthodontic group exhibited a 5.5% prevalence of congenitally missing permanent teeth (2.8% females; 2.7% males), while the non-orthodontic group showed a prevalence of 4% (3% females; 1% males). The descending order of prevalence for missing tooth types was as follows: lower second premolars, upper laterals, lower central incisors, lower canines, upper second premolars, and lower second molars. Among orthodontic patients with missing teeth, 62% presented with an Angle's Class II malocclusion. Hypodontia was most frequently observed in the mandible. No statistically significant differences were observed between the orthodontic and non-orthodontic groups in terms of the percentage of children and types of congenitally missing teeth. CONCLUSIONS: Congenitally missing teeth were observed in about 4-5% of the studied population with a female predilection. The lower second premolar was the most commonly absent tooth, followed by the maxillary lateral incisors. An Angle's Class II malocclusion was present in the majority of orthodontic patients with hypodontia, mostly in the mandible.

6.
Pak J Med Sci ; 40(3Part-II): 421-426, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38356796

RESUMO

Objective: This retrospective, cross-sectional analytical study investigated the incidence of tooth agenesis in cleft lip and palate (CLP) patients. Cone Beam Computed Tomography (CBCT) radiographs of the CLP children were examined for congenitally missing teeth. Method: This study was conducted at three radiology centers in Lahore, namely, the Pakistan Jinnah MRI and Body Scan Centre, the University of Lahore Radiology Centres, and Fatima Memorial Hospital, from September 2021 to August 2022. The CLP patients were divided into four groups based on the location of the cleft: Cleft Lip and Palate Right (CLPR), Cleft Lip and Palate Left (CLPL), Bilateral Cleft (CLPB), and Midline Cleft (CLPM), inside and outside the cleft region. Two-way ANOVA was employed to compare the means of agenesis. Tukey's test was utilized to ascertain where the difference lies. The significance level was set at p ≤ 0.05. Results: Moreover, a significant number of missing teeth were found inside the cleft. This study observed the CLPL (42.3%) and CLPR (13.6%) types more in number. Maxillary first premolars were found more missing outside the cleft region in CLPL and CLPB types. Although CLPB and CLPM types revealed a pattern of missing teeth, only a few cases were found in this study. Moreover, mean tooth agenesis was highest (4.5 SD.71) in the CLPM group, followed up by CLPB (2.75 SD 2.49), CLPR (1.23 SD 1.27), and CLPL Group (1.15 SD 1.12). Conclusions: Unilateral cleft lip and palate patients reported significant agenesis patttern compared to bilateral and median cleft cases.

7.
Arch Oral Biol ; 159: 105894, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38232498

RESUMO

OBJECTIVES: This retrospective study aimed to estimate the prevalence of non-syndromic congenitally missing teeth (CMT) and to explore the frequency of CMT patterns in a French orthodontic population. In addition, the study sought to assess sex-based differences in CMT patterns. DESIGN: Panoramic radiographs of 4569 orthodontic patients between 9 and 21 years-old performed over a 16-year period (2006-2022) were examined to identify non-syndromic tooth agenesis, excluding third molars. A chi-square test or a Fisher exact test were used to determine the difference in the prevalence of tooth agenesis between sex and between arches. RESULTS: Tooth agenesis was observed in 7.3% of the sample (7.9% for females and 6.6% for males). Approximately 86% of the included subjects presented 1 or 2 missing teeth. Single tooth agenesis was significantly more frequent in females than males (p = 0.002, χ2). In total, 23 of the 67 different patterns of CMT observed, were present more than once. 75.5% of male patients and 79.5% of female patients presented one or both missing lateral incisors or second premolars, rarely affected at the same time. This study showed no sex difference in the patterns of tooth agenesis. LIMITATIONS: This study has limitations due to its retrospective nature and our findings apply solely to an orthodontic population from a white ethnic background. CONCLUSIONS: Clinicians should be aware of this particular incisor/premolar phenotype regardless of biological sex. Issues associated with congenitally missing teeth can be managed more effectively with early teenage diagnosis.


Assuntos
Anodontia , Perda de Dente , Adolescente , Humanos , Masculino , Feminino , Criança , Adulto Jovem , Adulto , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia , Estudos Retrospectivos , Caracteres Sexuais , Dente Pré-Molar/diagnóstico por imagem , Dente Pré-Molar/anormalidades , Incisivo/anormalidades , Prevalência
8.
Eur J Orthod ; 46(1)2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37847809

RESUMO

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.


Assuntos
Mandíbula , Base do Crânio , Camundongos , Animais , Base do Crânio/diagnóstico por imagem , Mandíbula/diagnóstico por imagem , Microtomografia por Raio-X , Dieta , Imageamento Tridimensional
9.
Front Vet Sci ; 10: 1239809, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38098989

RESUMO

Introduction: Dental disease is a common condition affecting horses. Its prevalence and characteristics among most of the common breeds of horses and donkeys have been investigated and described in the literature, but information about the prevalence and etiology of dental disease of miniature horses is sparse. Methods: To determine the prevalence and characteristics of dental disease of miniature horses, we performed oral and dental radiographic examinations on 100 miniature horses. The findings of these examinations were analyzed to determine the prevalence of dental disease and its correlation to age, sex, weight, body condition score, height at the withers, head length and head width. Older horses had a higher prevalence of dental disease, diastemata and crown elongations. Results: The most common dental diseases detected in this population were crown elongation, oral mucosal ulceration, diastemata, class 1 malocclusion and hypodontia. Horses with a high body condition score had an increased likelihood of having a class 1 malocclusion. Horses with wider heads had a higher prevalence of dental disease and class 1 malocclusions. Conclusion: Frequent oral examinations, starting at an early age, should be prioritized as a part of miniature horse preventive health care to decrease morbidity and slow progression of dental disease.

10.
Int J Paediatr Dent ; 2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-38013205

RESUMO

BACKGROUND: In order to generate a normal set of teeth, fine-tuning of Wnt/ß-catenin signaling is required, in which WNT ligands bind to their inhibitors or WNT inhibitors bind to their co-receptors. Lrp4 regulates the number of teeth and their morphology by modulating Wnt/ß-catenin signaling as a Wnt/ß-catenin activator or inhibitor, depending on its interactions with the partner proteins, such as Sostdc1 and Dkk1. AIM: To investigate genetic etiologies of dental anomalies involving LRP4 in a Thai cohort of 250 children and adults with dental anomalies. DESIGN: Oral and radiographic examinations and whole exome sequencing were performed for every patient. RESULTS: Two novel (p.Leu1356Arg and p.Ala1702Gly) and three recurrent (p.Arg263His, p.Gly1314Ser, and p.Asn1385Ser) rare variants in low-density lipoprotein receptor-related protein 4 (LRP4: MIM 604270) were identified in 11 patients. Oral exostoses were observed in five patients. CONCLUSION: Antagonism of Bmp signaling by Sostdc1 requires the presence of Lrp4. Mice lacking Lrp4 have been demonstrated to have alteration of Wnt-Bmp-Shh signaling and an abnormal number of incisors. Therefore, the LRP4 mutations found in our patients may disrupt Wnt-Bmp-Shh signaling, thereby resulting in dental anomalies and oral exostoses. Root maldevelopment in the patients suggests an important role of LRP4 in root morphogenesis.

11.
Cureus ; 15(10): e46961, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38021739

RESUMO

Tooth agenesis, one of the most common developmental defects in humans, not only impairs oral function but can also lead to craniofacial deformities. Bibliometric analysis can reveal significant shifts in research and publishing trends within specific fields. This study aims to provide a comprehensive overview of the research hotspots in tooth agenesis and predict future trends through bibliometric analysis. We searched for English-language publications related to tooth agenesis from 2001 to 2021 on the Web of Science. The publications were limited to original and review articles, and bibliometric parameters such as publication year, country, institution, author, journal, citations, and keywords were extracted and analyzed using VOSviewer, Microsoft Excel 2010, and CiteSpace. A total of 2,287 papers were ultimately selected. The results show that the USA holds a leading position in the field of tooth agenesis research. A total of 9,803 authors participated in these studies, with Alexandre R Vieira from the USA being the most prolific and most cited author. This study indicates that multidisciplinary management has become the consensus first choice for treating dental agenesis. Gene mutations related to tooth agenesis continue to be a research hotspot attracting scholarly attention. Exploring the relationship between tooth agenesis and cancer may be a future research direction. These findings contribute to potential collaborations among experts in future research on the genetic causes of tooth agenesis and tumor development and to assist the scientific community by identifying research gaps in this field.

12.
Eur J Orthod ; 45(6): 868-874, 2023 11 30.
Artigo em Inglês | MEDLINE | ID: mdl-37861389

RESUMO

OBJECTIVE: The objective of this study was to examine the relative contributions of genetic and environmental influences on variation in dental arch form in individuals who have largely completed their craniofacial growth. MATERIAL AND METHODS: The subjects of this study comprised dental casts of 50 monozygotic twins and 24 dizygotic twins from the collection of records of twins housed at the Adelaide Dental School, Australia. The subjects were of Western European descent, with an average age of 20.93 ±â€…5.58 years. Dental casts were scanned using a 3D scanner to analyse the dental arch form. Landmark-based inter-arch and intra-arch measurements were performed. Structural equation modelling was employed to analyse the quantitative data using the normal assumptions of the twin model. RESULTS: Genetic modelling revealed that additive genetic and unique environmental factors best explained the observed variation for all occlusal traits measured, except for mandibular intercanine width. High heritability was observed for most intra-arch occlusal variables (0.61-0.85) including the maxillary and mandibular intercanine and intermolar widths, arch depth and perimeter. In contrast, moderate heritability was found for inter-arch occlusal variables (0.52-0.59) such as overjet and overbite. Sexual dimorphism was evident, with males displaying larger posterior arch width than females (P < 0.05). LIMITATIONS: Our sample was limited to individuals of Western European ancestry. CONCLUSION: The predominant source of occlusal variation within this group of Australian twins of Western European descent was controlled by genetic effects, and most were highly heritable. Generally, intra-arch occlusal variables showed greater heritability compared with inter-arch occlusal variables.


Assuntos
Má Oclusão Classe II de Angle , Sobremordida , Masculino , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Arco Dental , Austrália , Gêmeos Monozigóticos/genética
13.
Front Genet ; 14: 1248326, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37745851

RESUMO

Determining genotype-phenotype correlations in patients with hypodontia is important for understanding disease pathogenesis, although only a few studies have elucidated it. We aimed to identify genetic variants linked to non-syndromic bilateral mandibular second premolar hypodontia in a Korean population for the first time by specifying the phenotype of hypodontia. Twenty unrelated individuals with non-syndromic bilateral mandibular second premolar hypodontia were enrolled for whole-exome sequencing. Using a tooth agenesis gene set panel consisting of 112 genes based on literature, potential candidate variants were screened through variant filtering and prioritization. We identified 13 candidate variants in 12 genes, including a stop-gain variant (c.4750C>T) in LAMA3. Through the functional enrichment analysis of the prioritized genes, several terms related to tooth development were enriched in a protein-protein interaction network of candidate genes for mandibular premolar hypodontia. The hypodontia group also had approximately 2-fold as many mutated variants in all four genes related to these key terms, which are CDH1, ITGB4, LAMA3, LAMB3, as those in the 100 healthy control group individuals. The relationship between enriched terms and pathways and mandibular premolar hypodontia was also investigated. In addition, we identified some known oligodontia variants in patients with hypodontia, strengthening the possibility of synergistic effects in other genes. This genetic investigation may be a worthwhile preliminary attempt to reveal the pathogenesis of tooth agenesis and sets a background for future studies.

14.
Cleft Palate Craniofac J ; : 10556656231201834, 2023 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-37735913

RESUMO

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.

15.
Clin Implant Dent Relat Res ; 25(6): 1187-1196, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37608501

RESUMO

INTRODUCTION: Hypohidrotic ectodermal dysplasia (HED) patients suffering of oligo-anodontia require early dental treatment to improve oral functions and reduce social impairment. The aim of this study was to evaluate the skeletal growth, implant and prosthetic survival rate, success, and complications after the rehabilitation with a maxillary denture and an implant-supported overdenture provided by a sliding bar in case of severe hypodontia/anodontia related to HED. MATERIALS AND METHODS: This retrospective cohort study began in 2009. Nine patients over 7 years old with HED and associated oligo-anodontia who presented at the University of Bologna for dental treatment were included in the study. They were first treated with conventional dentures and then with a maxillary denture and an implant-supported overdenture with a sliding bar connected to two implants placed in the anterior mandible. The subjects treated were followed for 3-12 years. In each case, orthopanoramic and lateral cephalometric radiographic exam were taken before implant placement and annually after prosthetic load. Vertical and transverse dimensions of the mandible in the symphysis area at implant sites were taken on the lateral cephalometric radiography at the time of implant placement and after 5 years from the prosthetic loading to assess the presence or absence of an anterior mandibular growth. Biologic and mechanical complications were also recorded at every visit. RESULTS: A mandibular vertical growth under the implant apex, at the implant neck, and a sagittal growth of the symphysis after 5 years from the prosthetic loading were observed and measured. Implant and prosthetic success and survival rates were 100% after 8.1 years (mean) follow-up period. No complications were reported except in one patient, where the repositioning of a retentive cap on the counter bar in the superstructure was necessary after 3 years from the prosthetic loading. CONCLUSIONS: The present study suggests that the growth of the mandible near implant sites continues even after their positioning. Implants can be successfully placed and provide support for prosthetic rehabilitation in preteens patients with HED.


Assuntos
Anodontia , Implantes Dentários , Displasia Ectodérmica , Humanos , Criança , Estudos de Coortes , Revestimento de Dentadura , Estudos Retrospectivos , Anodontia/complicações , Anodontia/reabilitação , Displasia Ectodérmica/complicações , Displasia Ectodérmica/cirurgia , Mandíbula , Prótese Dentária Fixada por Implante/efeitos adversos , Resultado do Tratamento , Retenção de Dentadura
16.
Hered Cancer Clin Pract ; 21(1): 16, 2023 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-37626374

RESUMO

BACKGROUND: WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regulator and target of the canonical WNT signaling pathway. Germline mutations in AXIN2 are associated with absence of permanent teeth (hypo- and oligodontia) and predisposition to gastrointestinal polyps and cancer. The limited number of patients makes an accurate genotype-phenotype analysis currently challenging. CASE PRESENTATION: We present the case of a 55-year-old male with colorectal polyposis and hypodontia. Genetic testing confirmed a novel frameshift germline mutation in exon 8 of the AXIN2 gene. In addition, we provide an updated overview of germline AXIN2 mutations reported in literature. CONCLUSIONS: Although the number of missing teeth is less severe in our patient than in some previously reported cases, our findings provide additional evidence that missing teeth and gastrointestinal neoplasia are associated with rare pathogenic AXIN2 germline mutations.

17.
Jpn Dent Sci Rev ; 59: 209-218, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37645267

RESUMO

Patients with one or more developmentally absent teeth are routinely encountered in dental practice. Tooth agenesis can be associated with significant functional, aesthetic and psycho-social problems. The present article provides an overview of the prevalence and aetiology of tooth agenesis, as well as the condition's clinical characteristics and management options with reference to the evidence base. A timely diagnosis can facilitate the appropriate planning and management which might not be straightforward, and patient care will likely require multi- and inter-disciplinary input. It is critical that dental care practitioners are aware of the clinical characteristics and management options for tooth agenesis.

18.
Int J Clin Pediatr Dent ; 16(2): 388-395, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37519973

RESUMO

Hypodontia is an inherited condition involving the absence of one to six teeth. The permanent dentition is the most frequently affected; however, it may also affect the primary dentition. A congenitally missing tooth (CMT) is the most common dental abnormality, with the missing mandibular second premolar, maxillary lateral incisor, maxillary second premolar, and mandibular central incisor accounting for 90% of CMT in hypodontia studies. The etiology of CMT has been attributed to environmental and genetic contributing factors, with the latter having a strong influence. It may occur in isolation or in association with syndromes. Congenitally missing mandibular incisor is more common in the Asian population and females. Depending on the number and location of missing teeth, hypodontia may be a considerable issue for the clinician since it may impact occlusal balance, mastication, speech, and esthetics and often requires a multidisciplinary approach. Missing mandibular incisors are of particular interest to orthodontists because of the possibility of mandibular retrognathism, the potential for the development of malocclusion, and difficulty in achieving a balanced occlusion. This case report describes the skeletal and dental features of a nonsyndromic familial occurrence of missing mandibular incisors in three generations. A comprehensive literature search was also performed to review the familial cases with missing mandibular incisors. How to cite this article: Selvaraj M, Sennimalai K, Samrit VD, et al. A Rare Incidence of Nonsyndromic Mandibular Incisor Agenesis in a Three-generation Family: Case Report and Literature Review. Int J Clin Pediatr Dent 2023;16(2):388-395.

19.
Gels ; 9(6)2023 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-37367107

RESUMO

Hypodontia (dental agenesis) is a genetic disorder, and it has been identified that the mutation C175T in PAX9 could lead to hypodontia. Cas9 nickase (nCas9)-mediated homology-directed repair (HDR) and base editing were used for the correction of this mutated point. This study aimed to investigate the effect of HDR and the base editor ABE8e in editing PAX9 mutant. It was found that the chitosan hydrogel was efficient in delivering naked DNA into dental pulp stem cells (DPSCs). To explore the influence of the C175T mutation in PAX9 on the proliferation of DPSCs, hydrogel was employed to deliver PAX9 mutant vector into DPSCs, finding that the PAX9-containing C175T mutation failed to promote the proliferation of DPSCs. Firstly, DPSCs stably carrying PAX9 mutant were constructed. Either an HDR or ABE8e system was delivered into the above-mentioned stable DPSCs, and then the correction efficiency using Sanger sequencing and Western blotting was determined. Meanwhile, the ABE8e presented significantly higher efficiency in correcting C175T compared with HDR. Furthermore, the corrected PAX9 presented enhanced viability and differentiation capacity for osteogenic and neurogenic lineages; the corrected PAX9 even possessed extremely enhanced transcriptional activation ability. In summary, this study has powerful implications for studies into base editors, chitosan hydrogel, and DPSCs in treating hypodontia.

20.
Cureus ; 15(5): e39426, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37378140

RESUMO

The congenital absence of teeth is the most common dental anomaly affecting 2.2% to 10% of the population. It could be present in the form of anodontia, hypodontia, or oligodontia, excluding wisdom teeth. Oligodontia is most commonly associated with several syndromes like ectodermal dysplasia, Down syndrome, and Van der Woude syndrome that involve the mutation of the MSX-1 and PAX-1 genes. Few cases have been reported in the literature on how oligodontia affects primary dentition. In this case report, a total of 17 primary teeth were missing. This case report investigates whether the features of non-syndromic oligodontia are present in the primary dentition in a two-year-old boy.

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