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1.
Plant Cell Rep ; 43(5): 119, 2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38632145

RESUMO

KEY MESSAGE: Mutants lacking functional HYD2 homoeologs showed improved seedling growth, but comparable or increased susceptibility to salt stress in tillering plants, suggesting a developmentally restricted role of HYD2 in salt response. Salinity stress threatens global food security by reducing the yield of staple crops such as wheat (Triticum ssp.). Understanding how wheat responds to salinity stress is crucial for developing climate resilient varieties. In this study, we examined the interplay between carotenoid metabolism and the response to salt (NaCl) stress, a specific form of salinity stress, in tetraploid wheat plants with mutations in carotenoid ß-hydroxylase 1 (HYD1) and HYD2. Our investigation encompassed both the vulnerable seedling stage and the more developed tillering stage of wheat plant growth. Mutant combinations lacking functional HYD2 homoeologs, including hyd-A2 hyd-B2, hyd-A1 hyd-A2 hyd-B2, hyd-B1 hyd-A2 hyd-B2, and hyd-A1 hyd-B1 hyd-A2 hyd-B2, had longer first true leaves and slightly enhanced root growth during germination under salt stress compared to the segregate wild-type (control) plants. Interestingly, these mutant seedlings also showed decreased levels of neoxanthin and violaxanthin (xanthophylls derived from ß-carotene) and an increase in ß-carotene in roots. However, tillering hyd mutant and segregate wild-type plants generally did not differ in their height, tiller count, and biomass production under acute or prolonged salt stress, except for decreases in these parameters observed in the hyd-A1 hyd-B1 hyd-A2 hyd-B2 mutant that indicate its heightened susceptibility to salt stress. Taken together, these findings suggest a significant, yet developmentally restricted role of HYD2 homoeologs in salt-stress response in tetraploid wheat. They also show that hyd-A2 hyd-B2 mutant plants, previously demonstrated for possessing enriched nutritional (ß-carotene) content, maintain an unimpaired ability to withstand salt stress.


Assuntos
Anodontia , Plântula , beta Caroteno , Plântula/metabolismo , beta Caroteno/metabolismo , Triticum/genética , Tetraploidia , Carotenoides/metabolismo , Estresse Salino , Salinidade
2.
Eur J Orthod ; 46(3)2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38656537

RESUMO

INTRODUCTION: The most common treatment approaches for patients missing maxillary lateral incisors are implant replacement (IT) and orthodontic space closure (SC). Treatment techniques change and improve over time, and it is of interest to know if improvements differ between the methods. AIM: To compare the aesthetic outcome and other clinical findings in patients with one or two missing maxillary lateral incisors who were treated with a 10-year difference in time, with either orthodontic space closure or implant replacement. MATERIAL AND METHODS: A total of 88 patients were included in the study. Forty-four patients treated between 2011 and 2018 were included as the latter cohort (LC). The LC was compared to the early cohort (EC; n = 44), treated between 2001 and 2008. A total of 132 teeth was analysed: 62 teeth in the EC (28 teeth in IT cases and 34 teeth in SC cases) and 70 teeth in the LC (34 teeth in IT cases and 36 teeth in SC cases). Long-term clinical and aesthetic outcomes were evaluated. RESULTS: An improvement over time was found in crown length, BoP, papilla, the inclination of incisors, and overall appearance in IT cases and in crown colour and overbite in SC cases. A deterioration over time was found in crown length and BoP among the SC cases. CONCLUSION: Among the IT cases, an improvement in outcomes was noted over time. When comparing SC cases the colour of the crown and overbite had improved, while crown length and BoP had deteriorated over time.


Assuntos
Estética Dentária , Incisivo , Fechamento de Espaço Ortodôntico , Humanos , Incisivo/anormalidades , Incisivo/patologia , Feminino , Masculino , Fechamento de Espaço Ortodôntico/métodos , Maxila , Anodontia/terapia , Fatores de Tempo , Adulto , Adolescente , Resultado do Tratamento , Estudos Retrospectivos , Adulto Jovem
3.
Sci Rep ; 14(1): 9321, 2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38653789

RESUMO

ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1's physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy. The disease is also associated with a complex range of other phenotypes impacting the cardiovascular, skeletal, pulmonary and nervous systems. Aberrant accumulation of extracellular matrix components and fibrosis are considered to be crucial components in the pathogenesis of GAPO syndrome, contributing to the shortened life expectancy of affected individuals. Nonetheless, the specific mechanisms connecting ANTXR1 deficiency to the clinical manifestations of GAPO syndrome are largely unexplored. In this study, we present evidence that ANTXR1 deficiency initiates a senescent phenotype in human fibroblasts, correlating with defects in nuclear architecture and actin dynamics. We provide novel insights into ANTXR1's physiological functions and propose GAPO syndrome to be reconsidered as a progeroid disorder highlighting an unexpected role for an integrin-like extracellular matrix receptor in human aging.


Assuntos
Alopecia , Anodontia , Senescência Celular , Fibroblastos , Transtornos do Crescimento , Proteínas dos Microfilamentos , Humanos , Fibroblastos/metabolismo , Senescência Celular/genética , Alopecia/metabolismo , Alopecia/patologia , Alopecia/genética , Receptores de Superfície Celular/metabolismo , Receptores de Superfície Celular/genética , Receptores de Superfície Celular/deficiência , Atrofias Ópticas Hereditárias/genética , Atrofias Ópticas Hereditárias/metabolismo , Actinas/metabolismo , Progéria/genética , Progéria/patologia , Progéria/metabolismo
4.
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
6.
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
7.
Hua Xi Kou Qiang Yi Xue Za Zhi ; 42(1): 89-96, 2024 Feb 01.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-38475956

RESUMO

OBJECTIVES: To provide references, this study investigated the clinical characteristics of patients with nonsyndromic oligodontia. METHODS: The information of 178 patients with oligodontia was collected, including histories, oral examinations, and panoramic radiographs. Tooth agenesis characteristics were calculated and evaluated. All the data were statistically analyzed with SPSS 24.0 software. RESULTS: No significant difference in the number of missing teeth was found between sexes nor between the right and left sides, and congenitally missing teeth affected the maxillary arch (P<0.05). The highest prevalence of tooth agenesis was observed in the mandibular second premolars. In the maxillary arch, the most common pattern of tooth agenesis was agenesis of the bilateral first and second premolars. The agenesis of the bilateral second premolars was observed in the mandibular arch. The prevalence of a symmetric pattern between the right and left quadrants was significantly higher than that of matched patterns between the maxillary and mandibular antagonistic quadrants. Approximately 16.85% of patients with nonsyndromic oligodontia were affected by other tooth-related anomalies. CONCLUSIONS: The common patterns of tooth agenesis were successfully identified in patients with nonsyndromic oligodontia. Dentists need to provide multidisciplinary treatments for patients with nonsyndromic oligodontia because of variations in occluding and full-mouth tooth agenesis patterns.


Assuntos
Anodontia , Anormalidades Dentárias , Humanos , Anodontia/epidemiologia , Anodontia/genética , Anormalidades Dentárias/epidemiologia , Dente Pré-Molar/anormalidades , Maxila , Fenótipo , Prevalência
8.
Sci Rep ; 14(1): 5840, 2024 03 10.
Artigo em Inglês | MEDLINE | ID: mdl-38462644

RESUMO

Non-syndromic permanent tooth agenesis affects a significant proportion of the population, especially if third molars are considered. Although tooth agenesis has been linked to a smaller craniofacial size, reduced facial convexity and a shorter skeletal face, the occlusal characteristics of individuals with tooth agenesis remain largely unexplored. Therefore, this study investigated potential associations between tooth agenesis and metric occlusal traits in 806 individuals (491 with 4.1 missing teeth per subject, including third molars, and 315 without any tooth agenesis). Dentoskeletal morphology was defined through anatomical landmarks on pre-treatment cephalometric radiographs. Multivariate regression models, adjusted for sex and age, showed that tooth agenesis was significantly associated with a reduced overjet, an increased interincisal angle, and shorter upper and lower dental arch lengths, but not with overbite. Moreover, apart from reduced tooth length and dentoalveolar effects, as the number of missing teeth increased the upper front teeth were progressively retruded according to the craniofacial complex and to the face. Thus, tooth agenesis has a substantial influence on dental and occlusal characteristics, as well as on the sagittal position and inclination of anterior teeth. These findings emphasize the necessity for personalized, multidisciplinary approaches in individuals with multiple agenesis to successfully meet treatment goals.


Assuntos
Anodontia , Má Oclusão Classe II de Angle , Má Oclusão , Sobremordida , Dente , Humanos , Dente/diagnóstico por imagem , Dentição Permanente , Má Oclusão Classe II de Angle/terapia , Anodontia/diagnóstico por imagem , Cefalometria , Dente Serotino
9.
Eur J Med Genet ; 68: 104929, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38423276

RESUMO

GAPO syndrome is a rare genetic condition caused by bi-allelic variants in ANTXR1 gene & is an abbreviation for its core features - growth retardation, alopecia, pseudo-anodontia & optic atrophy. Certain additional features involving various other systems have been reported over the years & contribute to the expanding spectrum of this evolving phenotype. We report GAPO syndrome in a 3.75 year old Indian female child, who presented with some unique features such as sagittal craniosynostosis with scaphocephaly & bilateral choroid plexus cysts, alongside the core phenotype. We also report a novel frameshift variant in our patient & offer first evidence for the prenatal onset of some features.


Assuntos
Anodontia , Atrofias Ópticas Hereditárias , Pré-Escolar , Feminino , Humanos , Gravidez , Alopecia , Transtornos do Crescimento/genética , Proteínas dos Microfilamentos , Fenótipo , Doenças Raras , Receptores de Superfície Celular
10.
BMC Oral Health ; 24(1): 225, 2024 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-38350932

RESUMO

BACKGROUND: Double teeth are dental anomalies that can lead to aesthetic and orthodontic problems. CASE PRESENTATION: This report discusses two cases involving the multidisciplinary management of permanent maxillary left lateral incisors fused with a supernumerary tooth in two girls aged 9 and 10. Following intraoral and radiographic examinations, one was diagnosed with fusion, and the other was diagnosed with concrescence. The crown of the fused incisor was separated using a burs and extracted intraorally. The concrescent incisor was separated along its length using a laser and intentionally replanted extraorally. After a 6-year follow-up, no pathological signs were observed in the fused incisor. However, after an 11-year follow-up, external resorption was observed in the concrescent incisor. CONCLUSIONS: Both incisors remained asymptomatic throughout the observation period. This case report highlights two different and effective methods employed to preserve the natural function, form, and aesthetics of double incisors.


Assuntos
Anodontia , Incisivo , Incisivo/anormalidades , Dente Supranumerário , Feminino , Humanos , Incisivo/diagnóstico por imagem , Seguimentos , Coroa do Dente/anormalidades , Coroas , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/cirurgia , Maxila
11.
BMC Oral Health ; 24(1): 126, 2024 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-38267933

RESUMO

BACKGROUND AND AIM: Dental implantology has revolutionized oral rehabilitation, offering a sophisticated solution for restoring missing teeth. Despite advancements, issues like infection, inflammation, and osseointegration persist. Nano and biomaterials, with their unique properties, present promising opportunities for enhancing dental implant therapies by improving drug delivery systems. This review discussed the current applications of nano and biomaterials in drug delivery for dental implants. METHOD: A literature review examined recent studies and advancements in nano and biomaterials for drug delivery in dental implantology. Various materials, including nanoparticles, biocompatible polymers, and bioactive coatings, were reviewed for their efficacy in controlled drug release, antimicrobial properties, and promotion of osseointegration. RESULTS: Nano and biomaterials exhibit considerable potential in improving drug delivery for dental implants. Nanostructured drug carriers demonstrate enhanced therapeutic efficacy, sustained release profiles, and improved biocompatibility. Furthermore, bioactive coatings contribute to better osseointegration and reduced risks of infections. CONCLUSION: Integrating current nano and biomaterials in drug delivery for dental implants holds promise for advancing clinical outcomes. Enhanced drug delivery systems can mitigate complications associated with dental implant procedures, offering improved infection control, reduced inflammation, and optimized osseointegration.


Assuntos
Implantes Dentários , Sistemas de Liberação de Medicamentos , Humanos , Anodontia , Materiais Biocompatíveis , Inflamação
12.
BMC Oral Health ; 24(1): 25, 2024 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-38183071

RESUMO

BACKGROUND: Nephrotic syndrome is a chronic disorder characterized by heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Idiopathic minimal-change disease is the most common form encountered in children. Corticosteroids are the cornerstone for the treatment of idiopathic nephrotic syndrome (INS), with different regimens depending on the response to therapy and frequency of relapses. This case report presents complications after implant treatment in patient with INS. CASE PRESENTATION: 20 years old female patient presented for implant consultation. Medical history includes INS since early childhood, and she is on different medications to control her condition, including long-term steroid use. Dental history revealed that implant treatment was unsuccessful after multiple attempts. She presented with an implant on the area of lower left first mandibular molar, that shows increased mobility and radiolucency on radiographic examination. A diagnosis of implant failure was made, the implant was removed, and the area was cleaned and sutured. The patient decided to replace her missing teeth with fixed partial denture and was referred for prosthodontist. The potential adverse effect of steroid use and the possible underlying mechanism that could affect bone metabolism and implants osseointegration are reviewed. CONCLUSION: Clinical practice guidelines are needed for the management of dental implants in chronic steroid users.


Assuntos
Anodontia , Implantes Dentários , Síndrome Nefrótica , Pré-Escolar , Feminino , Humanos , Criança , Adulto Jovem , Adulto , Síndrome Nefrótica/complicações , Síndrome Nefrótica/tratamento farmacológico , Implantes Dentários/efeitos adversos , Esteroides
13.
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
14.
BMC Oral Health ; 24(1): 136, 2024 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-38280992

RESUMO

BACKGROUND: The aim of this study was to analyse the differences in the phenotypes of missing teeth between a pair of brothers with hypohidrotic ectodermal dysplasia (HED) and to investigate the underlying mechanism by comparing the mutated gene loci between the brothers with whole-exome sequencing. METHODS: The clinical data of the patients and their mother were collected, and genomic DNA was extracted from peripheral blood samples. By Whole-exome sequencing filtered for a minor allele frequency (MAF) ≤0.05 non-synonymous single-nucleotide variations and insertions/deletions variations in genes previously associated with tooth agenesis, and variations considered as potentially pathogenic were assessed by SIFT, Polyphen-2, CADD and ACMG. Sanger sequencing was performed to detect gene variations. The secondary and tertiary structures of the mutated proteins were predicted by PsiPred 4.0 and AlphaFold 2. RESULTS: Both brothers were clinically diagnosed with HED, but the younger brother had more teeth than the elder brother. An EDA variation (c.878 T > G) was identified in both brothers. Additionally, compound heterozygous variations of WNT10A (c.511C > T and c.637G > A) were identified in the elder brother. Digenic variations in EDA (c.878 T > G) and WNT10A (c.511C > T and c.637G > A) in the same patient have not been reported previously. The secondary structure of the variant WNT10A protein showed changes in the number and position of α-helices and ß-folds compared to the wild-type protein. The tertiary structure of the WNT10A variant and molecular simulation docking showed that the site and direction where WNT10A binds to FZD5 was changed. CONCLUSIONS: Compound heterozygous WNT10A missense variations may exacerbate the number of missing teeth in HED caused by EDA variation.


Assuntos
Anodontia , Displasia Ectodérmica Anidrótica Tipo 1 , Displasia Ectodérmica , Dente , Masculino , Humanos , Displasia Ectodérmica Anidrótica Tipo 1/complicações , Displasia Ectodérmica Anidrótica Tipo 1/genética , Displasia Ectodérmica/genética , Fenótipo , Anodontia/genética , Mutação , Proteínas Wnt/genética
15.
Ophthalmic Genet ; 45(1): 84-94, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37158316

RESUMO

BACKGROUND: Ectrodactyly is a rare congenital limb malformation characterized by a deep median cleft of the hand and/or foot due to the absence of central rays. It could be isolated or depicts a part of diverse syndromic forms. Heterozygous pathogenic variants in the TP63 gene are responsible for at least four rare syndromic human disorders associated with ectrodactyly. Among them, ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) syndrome is characterized by ectodermal dysplasia, excessive freckling, nail dysplasia, and lacrimal duct obstruction, in addition to ectrodactyly and/or syndactyly. Ophthalmic findings are very common in TP63-related disorders, consisting mainly of lacrimal duct hypoplasia. Absent meibomian glands have also been well documented in EEC3 (Ectrodactyly Ectodermal dysplasia Cleft lip/palate) syndrome but not in ADULT syndrome. METHODS: We report a case of syndromic ectrodactyly consistent with ADULT syndrome, with an additional ophthalmic manifestation of agenesis of meibomian glands. The proband, as well as her elder sister, presented with congenital cone dystrophy.The molecular investigation was performed in the proband using Whole Exome Sequencing. Family segregation of the identified variants was confirmed by Sanger sequencing. RESULTS: Two clinically relevant variants were found in the proband: the novel de novo heterozygous missense c.931A > G (p.Ser311Gly) in the TP63 gene classified as pathogenic, and the homozygous nonsense pathogenic c.1810C > T (p.Arg604Ter) in the CNGB3 gene. The same homozygous CNGB3 variation was also found in the sister, explaining the cone dystrophy in both cases. CONCLUSIONS: Whole Exome Sequencing allowed dual molecular diagnoses: de novo TP63-related syndromic ectrodactyly and familial CNGB3-related congenital cone dystrophy.


Assuntos
Anodontia , Mama , Fenda Labial , Fissura Palatina , Distrofia de Cones , Displasia Ectodérmica , Obstrução dos Ductos Lacrimais , Deformidades Congênitas dos Membros , Unhas Malformadas , Transtornos da Pigmentação , Adulto , Feminino , Humanos , Mama/anormalidades , Fenda Labial/diagnóstico , Fenda Labial/genética , Fissura Palatina/genética , Canais de Cátion Regulados por Nucleotídeos Cíclicos/genética , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Sequenciamento do Exoma , Glândulas Tarsais , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética
16.
Eur J Orthod ; 46(1)2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37870430

RESUMO

OBJECTIVE: To investigate the association between the number of third molars and craniofacial shape. SUBJECTS AND METHODS: The study sample comprised 470 individuals (194 males and 276 females), out of whom 310 (124 males, mean age: 14.6 years and 186 females, mean age: 14.1 years) had a full permanent dentition including third molars and 160 (70 males, mean age: 13.7 years and 90 females, mean age: 13.9 years) had at least one missing third molar. Pre-orthodontic treatment cephalometric images were digitized using 127 landmarks to describe the shape of the entire craniofacial configuration, the cranial base, the maxilla, and the mandible. The shapes of the various configurations were described by principal components (PCs) of shape. The effect of third molar agenesis on craniofacial shape was evaluated with multivariate regression models, considering shape PCs as the dependent variables, and age and sex as predictors. RESULTS: There was a strong association between third molar agenesis and the shape of all craniofacial configurations in both sexes. Individuals with missing third molars presented a less convex craniofacial configuration, a shorter anterior facial height and a more retrusive maxilla and mandible. In cases with third molar agenesis only in one jaw, shape differences were also evident in the opposing jaw. LIMITATIONS: Interpretation of study outcomes should take into consideration the two-dimensional data and the analysis of only white-European subjects. CONCLUSIONS: There is a strong association between third molar formation and craniofacial shape. The effect is rather generalized than local and is potentially linked to an ongoing evolutionary mechanism that leads to smaller and fewer teeth, as well as smaller craniofacial configurations, in modern humans.


Assuntos
Anodontia , Dente Serotino , Masculino , Feminino , Humanos , Adolescente , Dente Serotino/anormalidades , Dentição Permanente , Mandíbula , Maxila
17.
Mol Genet Genomic Med ; 12(1): e2334, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38069551

RESUMO

BACKGROUND: MSX1 (OMIM #142983) is crucial to normal dental development, and variants in MSX1 are associated with dental anomalies. The objective of this study was to characterize the pathogenicity of novel MSX1 variants in Chinese families with non-syndromic oligodontia (NSO). METHODS: Genomic DNA was extracted from individuals representing 35 families with non-syndromic oligodontia and was analyzed by Sanger sequencing and whole-exome sequencing. Pathogenic variants were screened via analyses involving PolyPhen-2, Sorting-Intolerant from Tolerant, and MutationTaster, and conservative analysis of variants. Patterns of MSX1-related NSO were analyzed. MSX1 structural changes suggested functional consequences in vitro. RESULTS: Three previously unreported MSX1 heterozygous variants were identified: one insertion variant (c.576_577insTAG; p.Gln193*) and two missense variants (c. 871T>C; p.Tyr291His and c. 644A>C; p.Gln215Pro). Immunofluorescence analysis revealed abnormal subcellular localization of the p.Gln193* MSX1 variant. In addition, we found that these MSX1 variants likely lead to the loss of second premolars. CONCLUSION: Three novel MSX1 variants were identified in Chinese Han families with NSO, expanding the MSX1 variant spectrum and presenting a genetic origin for the pathogenesis detected in patients and their families.


Assuntos
Anodontia , Fator de Transcrição MSX1 , Humanos , Anodontia/genética , China , Heterozigoto , Fator de Transcrição MSX1/genética , Mutação de Sentido Incorreto
18.
Cient. dent. (Ed. impr.) ; 20(3): 161-167, sept.-dic. 2023. ilus
Artigo em Espanhol | IBECS | ID: ibc-EMG-521

RESUMO

Introducción: Los implantes dentales de circona son una buena opción terapéutica que surge como alternativa a los implantes dentales convencionales de titanio, dadas sus excelentes propiedades de biocompatibilidad, baja acumulación de placa bacteriana y escaso infiltrado inflamatorio. El objetivo del presente caso clínico es describir la colocación de un implante monobloque de circona para reponer un incisivo lateral superior izquierdo en un paciente de 34 años de edad, para la posterior realización de una corona implantosoportada monolítica de circona. Descripción del caso: Se presenta un paciente varón de 34 años de edad, no fumador y sin antecedentes médico-quirúrgicos de interés (ASA I), que acudió a la consulta demandando una mejora en la estética de su sonrisa. El paciente presentaba una agenesia congénita en el incisivo lateral superior izquierdo que había sido tratada previamente con ortodoncia para cerrar dicho espacio. Tras el examen intraoral del paciente y el estudio radiográfico, se plantea la opción de tratamiento de abrir nuevamente el espacio mediante ortodoncia para rehabilitar la ausencia con un implante de circona, asegurando la estética que demandaba el paciente. Conclusiones: La rehabilitación mediante implantes de circona para el tratamiento de agenesias congénitas en incisivos laterales superiores, es una opción válida y efectiva, obteniendo resultados óptimos a nivel estético y funcional. Sin embargo, se necesitan más estudios clínicos con tamaños muestrales suficientes que comparen implantes de titanio y cerámicos con el fin de tener datos más concluyentes. (AU)


Introduction: Zirconia dental implants are a good therapeutic option emerging as an alternative to conventional titanium dental implants, given their excellent properties of biocompatibility, low bacterial plaque accumulation and low inflammatory infiltrate. The aim of the present clinical case is to describe the placement of a zirconia implant to replace an upper left lateral incisor in a 34-year-old patient, for the subsequent restoration of a monolithic implant-supported zirconia crown. Case description: A clinical case of a 34-year-old man is presented, nonsmoker and with no previous registered medical records (ASA I) who came to the dental clinic demanding an improvement in the aesthetics of his smile. The patient had a congenital agenesis of the left lateral incisor that had previously been treated with orthodontics to close the space. After the radiographic study and intraoral examination of the patient, the treatment option of reopening the space with a new phase of corrective orthodontics to rehabilitate the absence with a zirconia implant was proposed, ensuring the aesthetics demanded by the patient. Conclusions: Restoration using zirconia implants for the treatment of congenital agenesis in upper lateral incisors is a valid and effective option, obtaining optimal aesthetic and functional results. However, more clinical studies with sufficient sample sizes comparing titanium and ceramic implants are needed in order to have more conclusive data. (AU)


Assuntos
Humanos , Masculino , Adulto , Anodontia/cirurgia , Anodontia/terapia , Implantes Dentários
19.
Cient. dent. (Ed. impr.) ; 20(3): 161-167, sept.-dic. 2023. ilus
Artigo em Espanhol | IBECS | ID: ibc-229903

RESUMO

Introducción: Los implantes dentales de circona son una buena opción terapéutica que surge como alternativa a los implantes dentales convencionales de titanio, dadas sus excelentes propiedades de biocompatibilidad, baja acumulación de placa bacteriana y escaso infiltrado inflamatorio. El objetivo del presente caso clínico es describir la colocación de un implante monobloque de circona para reponer un incisivo lateral superior izquierdo en un paciente de 34 años de edad, para la posterior realización de una corona implantosoportada monolítica de circona. Descripción del caso: Se presenta un paciente varón de 34 años de edad, no fumador y sin antecedentes médico-quirúrgicos de interés (ASA I), que acudió a la consulta demandando una mejora en la estética de su sonrisa. El paciente presentaba una agenesia congénita en el incisivo lateral superior izquierdo que había sido tratada previamente con ortodoncia para cerrar dicho espacio. Tras el examen intraoral del paciente y el estudio radiográfico, se plantea la opción de tratamiento de abrir nuevamente el espacio mediante ortodoncia para rehabilitar la ausencia con un implante de circona, asegurando la estética que demandaba el paciente. Conclusiones: La rehabilitación mediante implantes de circona para el tratamiento de agenesias congénitas en incisivos laterales superiores, es una opción válida y efectiva, obteniendo resultados óptimos a nivel estético y funcional. Sin embargo, se necesitan más estudios clínicos con tamaños muestrales suficientes que comparen implantes de titanio y cerámicos con el fin de tener datos más concluyentes. (AU)


Introduction: Zirconia dental implants are a good therapeutic option emerging as an alternative to conventional titanium dental implants, given their excellent properties of biocompatibility, low bacterial plaque accumulation and low inflammatory infiltrate. The aim of the present clinical case is to describe the placement of a zirconia implant to replace an upper left lateral incisor in a 34-year-old patient, for the subsequent restoration of a monolithic implant-supported zirconia crown. Case description: A clinical case of a 34-year-old man is presented, nonsmoker and with no previous registered medical records (ASA I) who came to the dental clinic demanding an improvement in the aesthetics of his smile. The patient had a congenital agenesis of the left lateral incisor that had previously been treated with orthodontics to close the space. After the radiographic study and intraoral examination of the patient, the treatment option of reopening the space with a new phase of corrective orthodontics to rehabilitate the absence with a zirconia implant was proposed, ensuring the aesthetics demanded by the patient. Conclusions: Restoration using zirconia implants for the treatment of congenital agenesis in upper lateral incisors is a valid and effective option, obtaining optimal aesthetic and functional results. However, more clinical studies with sufficient sample sizes comparing titanium and ceramic implants are needed in order to have more conclusive data. (AU)


Assuntos
Humanos , Masculino , Adulto , Anodontia/cirurgia , Anodontia/terapia , Implantes Dentários
20.
PLoS One ; 18(11): e0293635, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37956148

RESUMO

Child labor has significant physical, psychological, and social consequences, which can persist into adulthood. This study investigates the association between the age at which an individual begins working and tooth loss in older adults in Ecuador. We analyzed data from the SABE 2009 survey (Survey of Health, Well-being, and Aging), using binary logistic regression to examine potential relationships. Our analytical sample comprised of 3,899 older adults from mainland Ecuador, with 42.50% having started working between the ages of 5 and 12. Unadjusted logistic regression results indicated that older adults who began working at ages 5-12 had a 42% higher risk of missing more than 4 teeth compared to those who started working at ages 18-25. After adjusting for potential confounders, the resulting risk was 28% higher than for the reference group [OR 1.28 95% CI 1.25-1.30]. Our findings demonstrate that early engagement in labor is a risk factor for tooth loss among older adults, displaying the long-term impacts of child labor on oral health. Health education and benefits should be provided to this vulnerable population for tooth loss prevention.


Assuntos
Anodontia , Perda de Dente , Dente , Criança , Humanos , Idoso , Adolescente , Adulto Jovem , Adulto , Pré-Escolar , Perda de Dente/epidemiologia , Estudos Transversais , Equador/epidemiologia
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