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1.
Genet Med ; 26(7): 101126, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38529886

RESUMO

PURPOSE: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog, a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with division transporter dispatched-1 (DISP1) variants. METHODS: This study was based on the identification of at least 1 pathogenic variant of the DISP1 gene in individuals for whom detailed clinical data were available. RESULTS: A total of 23 DISP1 variants were identified in heterozygous, compound heterozygous or homozygous states in 25 individuals with midline craniofacial defects. Most cases were minor forms of HPE, with craniofacial features such as orofacial cleft, solitary median maxillary central incisor, and congenital nasal pyriform aperture stenosis. These individuals had either monoallelic loss-of-function variants or biallelic missense variants in DISP1. In individuals with severe HPE, the DISP1 variants were commonly found associated with a variant in another HPE-linked gene (ie, oligogenic inheritance). CONCLUSION: The genetic findings we have acquired demonstrate a significant involvement of DISP1 variants in the phenotypic spectrum of midline defects. This underlines its importance as a crucial element in the efficient secretion of Sonic hedgehog. We also demonstrated that the very rare solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combination is part of the DISP1-related phenotype. The present study highlights the clinical risks to be flagged up during genetic counseling after the discovery of a pathogenic DISP1 variant.


Assuntos
Alelos , Holoprosencefalia , Fenótipo , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Anodontia , Fenda Labial/genética , Fenda Labial/patologia , Fissura Palatina/genética , Fissura Palatina/patologia , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/patologia , Heterozigoto , Holoprosencefalia/genética , Holoprosencefalia/patologia , Homozigoto , Incisivo/anormalidades , Proteínas de Membrana/genética , Mutação de Sentido Incorreto/genética
2.
Hum Genomics ; 17(1): 93, 2023 10 13.
Artigo em Inglês | MEDLINE | ID: mdl-37833774

RESUMO

BACKGROUND: Tooth agenesis is a common dental anomaly that can substantially affect both the ability to chew and the esthetic appearance of patients. This study aims to identify possible genetic factors that underlie various forms of tooth agenesis and to investigate the possible molecular mechanisms through which human dental pulp stem cells may play a role in this condition. RESULTS: Using whole-exome sequencing of a Han Chinese family with non-syndromic tooth agenesis, a rare mutation in FGFR1 (NM_001174063.2: c.103G > A, p.Gly35Arg) was identified as causative and confirmed by Sanger sequencing. Via GeneMatcher, another family with a known variant (NM_001174063.2: c.1859G > A, p.Arg620Gln) was identified and diagnosed with tooth agenesis and a rare genetic disorder with considerable intrafamilial variability. Fgfr1 is enriched in the ectoderm during early embryonic development of mice and showed sustained low expression during normal embryonic development of Xenopus laevis frogs. Functional studies of the highly conserved missense variant c.103G > A showed deleterious effects. FGFR1 (c.103G > A) was overexpressed compared to wildtype and promoted proliferation while inhibiting apoptosis in HEK293 and human dental pulp stem cells. Moreover, the c.103G > A variant was found to suppress the epithelial-mesenchymal transition. The variant could downregulate ID4 expression and deactivate the TGF-beta signaling pathway by promoting the expression of SMAD6 and SMAD7. CONCLUSION: Our research broadens the mutation spectrum associated with tooth agenesis and enhances understanding of the underlying disease mechanisms of this condition.


Assuntos
Anodontia , Humanos , Células HEK293 , Anodontia/genética , Mutação , Mutação de Sentido Incorreto/genética , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética
3.
Brain ; 146(12): 5070-5085, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-37635302

RESUMO

RNA polymerase III (Pol III)-related hypomyelinating leukodystrophy (POLR3-HLD), also known as 4H leukodystrophy, is a severe neurodegenerative disease characterized by the cardinal features of hypomyelination, hypodontia and hypogonadotropic hypogonadism. POLR3-HLD is caused by biallelic pathogenic variants in genes encoding Pol III subunits. While approximately half of all patients carry mutations in POLR3B encoding the RNA polymerase III subunit B, there is no in vivo model of leukodystrophy based on mutation of this Pol III subunit. Here, we determined the impact of POLR3BΔ10 (Δ10) on Pol III in human cells and developed and characterized an inducible/conditional mouse model of leukodystrophy using the orthologous Δ10 mutation in mice. The molecular mechanism of Pol III dysfunction was determined in human cells by affinity purification-mass spectrometry and western blot. Postnatal induction with tamoxifen induced expression of the orthologous Δ10 hypomorph in triple transgenic Pdgfrα-Cre/ERT; R26-Stopfl-EYFP; Polr3bfl mice. CNS and non-CNS features were characterized using a variety of techniques including microCT, ex vivo MRI, immunofluorescence, immunohistochemistry, spectral confocal reflectance microscopy and western blot. Lineage tracing and time series analysis of oligodendrocyte subpopulation dynamics based on co-labelling with lineage-specific and/or proliferation markers were performed. Proteomics suggested that Δ10 causes a Pol III assembly defect, while western blots demonstrated reduced POLR3BΔ10 expression in the cytoplasm and nucleus in human cells. In mice, postnatal Pdgfrα-dependent expression of the orthologous murine mutant protein resulted in recessive phenotypes including severe hypomyelination leading to ataxia, tremor, seizures and limited survival, as well as hypodontia and craniofacial abnormalities. Hypomyelination was confirmed and characterized using classic methods to quantify myelin components such as myelin basic protein and lipids, results which agreed with those produced using modern methods to quantify myelin based on the physical properties of myelin membranes. Lineage tracing uncovered the underlying mechanism for the hypomyelinating phenotype: defective oligodendrocyte precursor proliferation and differentiation resulted in a failure to produce an adequate number of mature oligodendrocytes during postnatal myelinogenesis. In summary, we characterized the Polr3bΔ10 mutation and developed an animal model that recapitulates features of POLR3-HLD caused by POLR3B mutations, shedding light on disease pathogenesis, and opening the door to the development of therapeutic interventions.


Assuntos
Anodontia , Anormalidades Craniofaciais , Doenças Desmielinizantes , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central , Doenças Neurodegenerativas , Humanos , Animais , Camundongos , RNA Polimerase III/genética , RNA Polimerase III/metabolismo , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Mutação/genética
4.
Clin Oral Investig ; 28(5): 297, 2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38700604

RESUMO

OBJECTIVE: This cross-sectional study investigated the association between fungiform papillae (FP) numbers and tooth number anomalies in children, considering variables related to hypodontia and hyperdontia. The aim was to explore this association while adjusting for age and sex differences. MATERIALS AND METHODS: A total of 144 children (aged 8-10) were categorized into hypodontia (n = 48), hyperdontia (n = 48), and control groups (n = 48). Clinical and radiographic diagnoses were used to classify tooth number anomalies. Hypodontia was categorized by number and location, while hyperdontia was categorized by number, shape, and location. FP were assessed using the Denver Papillae Protocol. Data analyses were performed using NCSS software, with p < 0.05 considered statistically significant. RESULTS: The hypodontia group (22.5 ± 8.4) exhibited significantly lower FP than the control group (30.4 ± 9.2) and the hyperdontia group (27.9 ± 7.8) (p < 0.0005, p = 0.003, respectively). No significant difference existed between the hyperdontia and control groups. FP numbers in hypodontia subgroups showed no significant differences based on teeth agenesis numbers or locations. Similarly, hyperdontia subgroup analyses revealed no significant differences in FP numbers based on supernumerary teeth shapes (supplemental, conical, tuberculoid, paramolar) or the numbers of supernumerary teeth. CONCLUSIONS: The lower FP numbers in children with hypodontia suggested an association between teeth and FP number. However, the non-significant difference in FP numbers with hyperdontia underscored the complexity of tooth development, warranting further investigations. CLINICAL RELEVANCE: Children with hypodontia may exhibit distinct FP numbers compared to those without tooth number anomalies.


Assuntos
Anodontia , Humanos , Feminino , Estudos Transversais , Masculino , Criança , Anodontia/epidemiologia , Anodontia/diagnóstico por imagem , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/epidemiologia
5.
Clin Oral Investig ; 28(5): 287, 2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38684576

RESUMO

OBJECTIVES: Coffin-Siris Syndrome (CSS) is a congenital disorder characterized by delayed growth, dysmorphic facial features, hypoplastic nails and phalanges of the fifth digit, and dental abnormalities. Tooth agenesis has been reported in CSS patients, but the mechanisms regulating this syndromic tooth agenesis remain largely unknown. This study aims to identify the pathogenic mutation of CSS presenting tooth genesis and explore potential regulatory mechanisms. MATERIALS AND METHODS: We utilized whole-exome sequencing to identify variants in a CSS patient, followed by Sanger validation. In silico analysis including conservation analysis, pathogenicity predictions, and 3D structural assessments were carried out. Additionally, single-cell RNA sequencing and fluorescence in situ hybridization (FISH) were applied to explore the spatio-temporal expression of Sox4 expression during murine tooth development. Weighted Gene Co-expression Network Analysis (WGCNA) was employed to examine the functional role of SOX4. RESULTS: A novel de novo SOX4 missense mutation (c.1255C > G, p.Leu419Val) was identified in a Chinese CSS patient exhibiting tooth agenesis. Single-cell RNA sequencing and FISH further verified high expression of Sox4 during murine tooth development, and WGCNA confirmed its central role in tooth development pathways. Enriched functions included cell-substrate junctions, focal adhesion, and RNA splicing. CONCLUSIONS: Our findings link a novel SOX4 mutation to syndromic tooth agenesis in CSS. This is the first report of SOX4 missense mutation causing syndromic tooth agenesis. CLINICAL RELEVANCE: This study not only enhances our understanding of the pathogenic mutation for syndromic tooth agenesis but also provides genetic diagnosis and potential therapeutic insights for syndromic tooth agenesis.


Assuntos
Anodontia , Sequenciamento do Exoma , Face , Deficiência Intelectual , Micrognatismo , Mutação de Sentido Incorreto , Pescoço , Fatores de Transcrição SOXC , Animais , Feminino , Humanos , Masculino , Camundongos , Anormalidades Múltiplas/genética , Anodontia/genética , Face/anormalidades , Deformidades Congênitas da Mão/genética , Hibridização in Situ Fluorescente , Micrognatismo/genética , Pescoço/anormalidades , Fatores de Transcrição SOXC/genética
6.
Clin Oral Investig ; 28(8): 443, 2024 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-39046553

RESUMO

OBJECTIVES: The study aimed to examine the authenticity of the often-mentioned statement that the third molar is the most frequently extracted tooth. This finding has not been shown previously in a large population-based sample. MATERIALS AND METHODS: Data comprised a nationally representative sample of 6082 panoramic radiographs taken from adults in the cross-sectional Health 2000 Survey. From the radiographs, all missing teeth were recorded. Information on congenital agenesis of individual teeth was retrieved from two published meta-analyses. Primary outcome was the frequency of missing teeth by tooth type. Explanatory variables were age, sex, and the jaw (maxilla/mandible). Statistical analyses included χ2 test and binomial logistic regression. RESULTS: Mean age of participants (46% men, 54% women) was 53 years (SD 14.6; range 30‒97 years). Missing teeth occurred more often in women than in men (P < 0.001). The third molar was most frequently missing and the canine least frequently. In the maxilla and mandible, the third molar was missing more often than each of the other tooth types up to the age of 80 years (P < 0.01). CONCLUSIONS: When considering the rates of congenital agenesis of individual teeth, it is concluded that the third molar remained the most common tooth extracted up till the age of 80 years. CLINICAL RELEVANCE: The third molar is the most common target for extraction, but also the most common tooth associated with malpractice claims, and therefore, calls for skills, adequate equipment, and other resources for a successful extraction.


Assuntos
Dente Serotino , Radiografia Panorâmica , Extração Dentária , Humanos , Masculino , Feminino , Dente Serotino/diagnóstico por imagem , Dente Serotino/anormalidades , Estudos Transversais , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Extração Dentária/estatística & dados numéricos , Anodontia/diagnóstico por imagem , Anodontia/epidemiologia
7.
J Craniofac Surg ; 35(5): e472-e474, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38810252

RESUMO

Hamamy Syndrome is an autosomal recessive syndrome with craniofacial, neurological, and osteological implications. Patients most commonly present with repeated long fractures however, other affected systems with their respective clinical presentations warrant a thorough reporting and understanding of this genetic disorder. Herein, the authors, present a 21-year-old male patient diagnosed with Hamamy Syndrome with bilateral stenosis of the optic canals and associated bilateral vision loss. This case report documents the patient's initial presentation 6 years ago, which included a history of right vision loss for 2 months, followed by a 6-year follow-up period during which the patient underwent 3 optic nerve decompression surgeries. There is currently a limited number of reports in the English literature on Hamamy Syndrome, with the primary focus being on genetic, dental, orthopedic, and neuropsychiatric aspects, but the neural foraminal narrowing with associated neuropathy has never been reported.


Assuntos
Descompressão Cirúrgica , Humanos , Masculino , Descompressão Cirúrgica/métodos , Adulto Jovem , Constrição Patológica/cirurgia , Doenças do Nervo Óptico/cirurgia , Endoscopia/métodos , Deficiência Intelectual/complicações , Alopecia , Anodontia , Transtornos do Crescimento , Atrofias Ópticas Hereditárias
8.
Int J Mol Sci ; 25(13)2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-39000154

RESUMO

Putatively, tooth agenesis was attributed to the initiation failure of tooth germs, though little is known about the histological and molecular alterations. To address if constitutively active FGF signaling is associated with tooth agenesis, we activated Fgf8 in dental mesenchyme with Osr-cre knock-in allele in mice (Osr2-creKI; Rosa26R-Fgf8) and found incisor agenesis and molar microdontia. The cell survival assay showed tremendous apoptosis in both the Osr2-creKI; Rosa26R-Fgf8 incisor epithelium and mesenchyme, which initiated incisor regression from cap stage. In situ hybridization displayed vanished Shh transcription, and immunostaining exhibited reduced Runx2 expression and enlarged mesenchymal Lef1 domain in Osr2-creKI; Rosa26R-Fgf8 incisors, both of which were suggested to enhance apoptosis. In contrast, Osr2-creKI; Rosa26R-Fgf8 molar germs displayed mildly suppressed Shh transcription, and the increased expression of Ectodin, Runx2 and Lef1. Although mildly smaller than WT controls prenatally, the Osr2-creKI; Rosa26R-Fgf8 molar germs produced a miniature tooth with impaired mineralization after a 6-week sub-renal culture. Intriguingly, the implanted Osr2-creKI; Rosa26R-Fgf8 molar germs exhibited delayed odontoblast differentiation and accelerated ameloblast maturation. Collectively, the ectopically activated Fgf8 in dental mesenchyme caused incisor agenesis by triggering incisor regression and postnatal molar microdontia. Our findings reported tooth agenesis resulting from the regression from the early bell stage and implicated a correlation between tooth agenesis and microdontia.


Assuntos
Fator 8 de Crescimento de Fibroblasto , Incisivo , Mesoderma , Dente Molar , Animais , Fator 8 de Crescimento de Fibroblasto/genética , Fator 8 de Crescimento de Fibroblasto/metabolismo , Camundongos , Incisivo/anormalidades , Incisivo/metabolismo , Mesoderma/metabolismo , Mesoderma/patologia , Dente Molar/anormalidades , Dente Molar/metabolismo , Anodontia/genética , Anodontia/metabolismo , Anodontia/patologia , Apoptose , Proteínas Hedgehog/metabolismo , Proteínas Hedgehog/genética , Fator 1 de Ligação ao Facilitador Linfoide/metabolismo , Fator 1 de Ligação ao Facilitador Linfoide/genética , Subunidade alfa 1 de Fator de Ligação ao Core/genética , Subunidade alfa 1 de Fator de Ligação ao Core/metabolismo , Transdução de Sinais , Regulação da Expressão Gênica no Desenvolvimento , Odontogênese/genética , Camundongos Transgênicos
9.
J Esthet Restor Dent ; 36(8): 1093-1099, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38291733

RESUMO

OBJECTIVE: Agenesis of the maxillary permanent lateral incisors is a condition that requires treatment aimed at improving the esthetics, even at an early age. However, traditional therapeutic protocols are long, invasive and have limitations and contraindications imposed by the age of the patient. CLINICAL CONSIDERATIONS: Recent developments in restorative dentistry have provided a new approach to this clinical situation, in particular when the deciduous laterals are retained. We report two cases regarding the management of missing lateral incisors using Biologically Active Intrasulcular Restoration (BAIR) technique. The BAIR technique allows us to transform the shape of the deciduous lateral incisor into the permanent, acting both on the dental morphology and proportions, and on the appearance of the soft tissues and the gingival parables. CONCLUSIONS: The BAIR technique is a valid approach to cases of agenesis of the maxillary permanent lateral incisors, when the deciduous are retained. It does not require any preparation of the dental tissues, is reversible and minimally invasive. It is applicable to patients of all ages, and results are obtained in a single appointment. CLINICAL SIGNIFICANCE: The BAIR technique allows a biomimetic conservative approach for the rehabilitation of congenitally missing permanent lateral incisors, when the deciduous are retained. It is a non-invasive protocol and effective in successfully restoring esthetics.


Assuntos
Incisivo , Maxila , Feminino , Humanos , Masculino , Anodontia/terapia , Biomimética , Restauração Dentária Permanente/métodos , Estética Dentária , Incisivo/anormalidades , Maxila/anormalidades , Dente Decíduo/anormalidades , Adolescente
10.
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
11.
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
12.
BMC Oral Health ; 24(1): 840, 2024 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-39048976

RESUMO

BACKGROUND: Non-syndromic tooth agenesis (NSTA) is a type of ectodermal dysplasia (ED) in which patients with non-syndromic oligodontia may only affect teeth. No pathological findings were found in other tissues of the ectodermal. Herein, we report a case of a NSTA patient with severe dental anxiety and poor oral health. CASE PRESENTATION: A 5-year-old boy without systemic diseases presented as a patient with oligodontia, extensive caries, and periapical periodontitis. Molecular genetic analysis found a mutation in the Ectodysplasin A (EDA) gene, confirming the diagnosis of NSTA. CONCLUSION: Tooth agenesis (TA) is the most common ectodermal developmental abnormality in humans. Non-syndromic oligodontia patients often seek treatment in the department of stomatology. Because of their complex oral conditions, these patients should be provided with a systematic and personalized treatment plan.


Assuntos
Anodontia , Humanos , Masculino , Anodontia/genética , Anodontia/terapia , Pré-Escolar , Ectodisplasinas/genética , Periodontite Periapical/terapia , Cárie Dentária/terapia , Mutação
13.
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
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.
BMC Oral Health ; 24(1): 960, 2024 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-39153972

RESUMO

BACKGROUND: Pattern of dental anomalies encountered in cleft patients shows subtle signs of genetic involvement. This study aimed to evaluate the prevalence and pattern of tooth agenesis and supernumerary teeth in Thai cleft population according to the cleft type. METHODS: Data collected from patients with cleft lip and palate, who had been treated at Tawanchai Cleft Center, Khon Kaen University, Thailand, available during year 2012-2022, were investigated. Records from 194 patients with non-syndromic clefts met the inclusion criteria. Standard dental records, and at least either orthopantomogram (OPG) or cone beam computed tomography (CBCT), were examined. Statistical analysis was performed using chi-square and binominal test (p ≤ 0.05). RESULTS: Prevalence of tooth agenesis was higher (77.3%) than that of supernumerary teeth (5.7%) and was more common in bilateral cleft lip and palate (BCLP) (88.1%) than in unilateral cleft lip and palate (UCLP) (72.6%) (p = 0.017). The upper lateral incisor was more frequently affected (46.4%), followed by the upper second premolar. The number of missing teeth observed on the left side was significantly higher. Patients with left UCLP (ULCLP) had the highest prevalence of tooth agenesis. A total of 41 tooth agenesis code (TAC) patterns was found. The prevalence of supernumerary teeth was comparable with 6.6% of ULCLP, 5.1% of BCLP, and 4.5% of URCLP. Tooth-number anomalies were observed more often in the BCLP and were most likely to occur on the left side of the maxilla. Both types of anomalies could be featured in a small proportion of cleft patients. CONCLUSIONS: More than half of the patients with non-syndromic cleft lip and palate in this study, presented with tooth-number anomalies. Tooth agenesis was approximately 10-time more prevalent than supernumerary teeth. Tooth agenesis was likely to appear on the left-side of the maxilla regardless of the laterality of the cleft.


Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Tomografia Computadorizada de Feixe Cônico , Dente Supranumerário , Humanos , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Dente Supranumerário/epidemiologia , Dente Supranumerário/diagnóstico por imagem , Tailândia/epidemiologia , Prevalência , Masculino , Feminino , Anodontia/epidemiologia , Anodontia/diagnóstico por imagem , Adolescente , Criança , Radiografia Panorâmica , Adulto Jovem , População do Sudeste Asiático
16.
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
17.
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
18.
BMC Oral Health ; 24(1): 664, 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38849789

RESUMO

BACKGROUND: This study aims to evaluate the prevalence of malocclusion and orthodontic features among schoolchildren in the West Bank, Palestine. METHODS: A stratified cluster sample of 1278 schoolchildren (620 males, 658 females, mean age 12 years and 5 months (± 0.5)) were examined. Candidates who had not received any previous orthodontic treatment were only included. Dental anomalies like missing and ectopic teeth were recorded. The anteroposterior occlusal relationship was assessed based on Angle classification. Overjet and overbite were measured. Crowding and spacing were recorded subjectively. In addition, crossbite, openbite, and midline displacement were recorded. The chi-square test and descriptive analysis were used statistically. RESULTS: The study found Angle Class I molar relationship in 65%, Class II div 1 in 17%, Class II div 2 in 6%, and Class III in 12% of the sample. An overjet (OJ) of more than 4 mm was present in 17%, and 4% had OJ of more than 6 mm; an OJ of at least 0 mm or less in 36%, and 6% had a reverse OJ. A normal overbite was observed in 53%, while 28% had an increase and 19% had a decreased overbite. An anterior openbite (AOB) was present in 9%, and a scissor bite or anterior crossbite in 6% and 14%, respectively. A posterior crossbite was observed in 12% (9% unilateral and 3% bilateral). Midline displacement was found in (9%). Crowding was observed in 35% and 31% and spacing in 24% and 15% of the maxillary and mandibular arches, respectively. A statistically significant relationship between gender and midline shift, a diastema, spacing in the upper arch, and most dental anomalies was found; males were more affected (p < 0.05). CONCLUSION: This study reported a high prevalence of malocclusion among schoolchildren in Palestine. A collaborative effort should be directed to obtain more monitoring and surveillance of malocclusion more frequently to prevent and control the exacerbation of the problem.


Assuntos
Árabes , Diastema , Má Oclusão Classe III de Angle , Má Oclusão Classe II de Angle , Má Oclusão Classe I de Angle , Má Oclusão , Sobremordida , Humanos , Masculino , Feminino , Má Oclusão/epidemiologia , Criança , Prevalência , Sobremordida/epidemiologia , Má Oclusão Classe II de Angle/epidemiologia , Árabes/estatística & dados numéricos , Má Oclusão Classe III de Angle/epidemiologia , Diastema/epidemiologia , Má Oclusão Classe I de Angle/epidemiologia , Oriente Médio/epidemiologia , Mordida Aberta/epidemiologia , Erupção Ectópica de Dente/epidemiologia , Anodontia/epidemiologia , Fatores Sexuais , Adolescente
19.
Forensic Sci Med Pathol ; 20(1): 23-31, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36892806

RESUMO

The identification of teeth in 3D medical images can be a first step for victim identification from scant remains, for comparison of ante- and postmortem images or for other forensic investigations. We evaluate the performance of a tooth detection approach on mandibles with missing parts or pathologies based on statistical shape models. The proposed approach relies on a shape model that has been built from the full lower jaw, including the mandible and teeth. The model is fitted to the target, resulting in a reconstruction, in addition to a label map that indicates the presence or absence of teeth. We evaluate the accuracy of the proposed solution on a dataset consisting of 76 target mandibles, all extracted from CT images and exhibiting various cases of missing teeth or other cases, such as roots, implants, first dentition, and gap closure. We show an accuracy of approximately 90% on the front teeth (including incisors and canines in our study) that decreases for the molars due to high false-positive rates at the wisdom teeth level. Despite the drop in performance, the proposed approach can be used to obtain an estimate of the tooth count without wisdom teeth, tooth identification, reconstruction of the existing teeth to automate measurements taken as part of routine forensic procedures, or prediction of the missing teeth shape. In comparison to other approaches, our solution relies solely on shape information. This means it can be applied to cases obtained from either medical images or 3D scans because it does not depend on the imaging modality intensities. Another novelty is that the proposed solution avoids heuristics for the separation of teeth or for fitting individual tooth models. The solution is therefore not target-specific and can be directly applied to detect missing parts in other target organs using a shape model of the new target.


Assuntos
Anodontia , Dente , Humanos , Dente/diagnóstico por imagem , Imageamento Tridimensional/métodos , Dente Molar , Mandíbula/diagnóstico por imagem
20.
Forensic Sci Med Pathol ; 20(1): 233-238, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37659006

RESUMO

Severe intracranial trauma during torture or assault is reportedly caused by shaken adult syndrome. However, intracranial traumas caused by natural forces, excluding human factors and collision impact, are extremely rare. We report an autopsy case of shaken adult syndrome caused by ocean wave forces. A man in his 40s without any medical history was washed away by a wave during recreational fishing. He was found approximately 500 m away from the fishing point drifting on the ocean in a state of cardiopulmonary arrest and was confirmed dead, with no response to cardiopulmonary resuscitation, 3 h after the accident. The autopsy revealed no mechanical trauma to the entire body surface, including the head. Both lungs were inflated, and pleural effusion was observed. The brain was swollen and congested, and subarachnoid hemorrhage was observed in the interhemispheric fissure and the convexity of the parietal occipital lobe. Macroscopic and microscopic hemorrhage spots were found in the brain, and the results of the blood alcohol test and urinary toxicological screening were negative. The cause of death was determined as drowning. This case demonstrates a rare but notable mechanism of injury observed in immersed bodies.


Assuntos
Anodontia , Encéfalo , Mama/anormalidades , Traumatismos Craniocerebrais , Displasia Ectodérmica , Obstrução dos Ductos Lacrimais , Deformidades Congênitas dos Membros , Unhas Malformadas , Transtornos da Pigmentação , Masculino , Adulto , Humanos , Autopsia , Oceanos e Mares
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