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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.
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
3.
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
5.
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
6.
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
7.
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
8.
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
9.
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
Anodontia , Implantes Dentários , Humanos , Materiais Biocompatíveis , Sistemas de Liberação de Medicamentos , Inflamação
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
BMC Oral Health ; 23(1): 877, 2023 11 17.
Artigo em Inglês | MEDLINE | ID: mdl-37978489

RESUMO

INTRODUCTION: Despite researchers' recent interest in identifying links between some dental and craniovertebral abnormalities, there are many important, unassessed gaps in our knowledge of this matter. In addition, previous samples were small. This large study aimed to examine, for the first time, the occurrence/severity of numerous dental and skeletal anomalies or variations and their correlations with each other and with growth patterns. METHODS: This epidemiological study was conducted on pretreatment radiographs of 1194 patients from 3 cities (815 females). Skeletal sagittal skeletal relationships and vertical growth patterns were determined. The occurrence/severity were assessed for: cervical vertebral fusion (CVF), atlas posterior arch deficiency (APAD), ponticulus posticus (PP), sella turcica bridging (STB), hypodontia, oligodontia, hyperdontia, missing of maxillary laterals, microdontia, macrodontia, root dilaceration, odontoma, taurodontism, dental fusion, dental gemination, enamel pearl, permanent molar ankylosis, primary molar ankylosis, dens in dente, dens invaginatus, dental impaction, ectopic eruption, and dental transposition. Incidental findings were recorded as well. Concurrent anomalies, sex dimorphism, and correlations across variables were examined statistically, adjusting for the false discovery rate (α = 0.05). RESULTS: Prevalence was calculated for 43 dentoskeletal traits/anomalies (22 abnormalities/variations [plus their severities/types] as well as 21 incidentally found traits/anomalies). Dental impaction may be more common in hyperdivergent and severer cases of sella bridging; also, primary molar ankylosis was associated with missing teeth. Dental impaction was associated only with STB and not with PP, APAD, or vertebral fusion. The only association observed among the four skeletal anomalies was seen between APAD and CVF. Merely the variables 'sagittal skeletal relationships, vertical growth patterns, PP, and APAD' showed sexual dimorphism; of these, only vertical growth pattern and APAD remained sexually dimorphic after adjusting for the FDR; still, the other two remained marginally significant and worth further evaluations. Sex dimorphism did not exist in concurrent abnormalities. The skeletal Class III was associated with the concurrent occurrence of craniovertebral, dental, and dentoskeletal abnormalities. Skeletal Class I was associated with fewer occurrences of concurrent dental anomalies. Vertical growth patterns were not associated with concurrent dental or dentoskeletal anomalies. However, the hyperdivergent pattern was associated with fewer cases of concurrent craniovertebral abnormalities. CONCLUSIONS: STB and hyperdivergent pattern were associated with dental impaction. However, APAD, CVF, or PP were not associated with dental impaction. APAD was associated with CVF. Sexual dimorphism existed conclusively in the case of vertical growth patterns and APAD. Concurrent abnormalities (dental, skeletal, and dentoskeletal) were associated with skeletal Class III.


Assuntos
Anquilose , Anodontia , Anormalidades Dentárias , Anquilose Dental , Dente Impactado , Dente Supranumerário , Feminino , Humanos , Dente Impactado/epidemiologia , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/epidemiologia , Anodontia/epidemiologia , Dente Supranumerário/epidemiologia , Estudos Epidemiológicos
18.
BMC Oral Health ; 23(1): 945, 2023 11 29.
Artigo em Inglês | MEDLINE | ID: mdl-38031027

RESUMO

BACKGROUND: Nonsyndromic cleft lip and/or without cleft palate (NSCL/P) with or without hypodontia is a common developmental aberration in humans and animals. This study aimed to identify the loss of heterozygosity (LOH) involved in hypodontia and NSCL/P pathogenesis. METHODS: This is a cross-sectional study that conducted genome-wide copy number analysis using CytoScan 750K array on salivary samples from Malay subjects with NSCL/P with or without hypodontia aged 7-13 years. To confirm the significant results, simple logistic regression was employed to conduct statistical data analysis using SPSS software. RESULTS: The results indicated the most common recurrent copy neutral LOH (cnLOH) observed at 1p33-1p32.3, 1q32.2-1q42.13 and 6p12.1-6p11.1 loci in 8 (13%), 4 (7%), and 3 (5%) of the NSCL/P subjects, respectively. The cnLOHs at 1p33-1p32.3 (D1S197), 1q32.2-1q42.13 (D1S160), and 6p12.1-6p11.1 (D1S1661) were identified observed in NSCL/P and noncleft children using microsatellite analysis markers as a validation analysis. The regions affected by the cnLOHs at 1p33-1p32.3, 1q32.2-1q42.13, and 6p12.1-6p11.1 loci contained selected genes, namely FAF1, WNT3A and BMP5, respectively. There was a significant association between the D1S197 (1p33-32.3) markers containing the FAF1 gene among NSCL/P subjects with or without hypodontia compared with the noncleft subjects (p-value = 0.023). CONCLUSION: The results supported the finding that the genetic aberration on 1p33-32.3 significantly contributed to the development of NSCL/P with or without hypodontia. These results have an exciting prospect in the promising field of individualized preventive oral health care.


Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Criança , Animais , Humanos , Fissura Palatina/genética , Fenda Labial/genética , Anodontia/genética , Estudos Transversais , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Cromossomos , Estudos de Casos e Controles , Predisposição Genética para Doença , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Reguladoras de Apoptose/genética
19.
Niger J Clin Pract ; 26(9): 1215-1225, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37794532

RESUMO

Dental implants are considered an ideal treatment for a missing single tooth. Immediate loading of implants can hasten the procedure, providing comfort to the patients. Recently, immediate loading of implants has gained much importance as it helps hasten the procedure and provides more comfort to patients. A previous systematic review published 5 years ago compared the success rates between immediate and conventional loading. There are several factors that influence the success rate of implants that were not discussed in detail in the previous review. Hence, the present systematic review is done to report differences in the outcomes from single implant restorations of missing teeth in the posterior region in patients who were subjected to immediate loading and conventional loading. A follow up for 1 year was done. Electronic databases of Medline, Scopus, and Web of Science were searched for publications in the English Language during May 2021. The search results yielded 306 articles, out of which 225 were excluded based on title and abstract screening. Screening of the remaining 81 full text articles yielded 14 original research articles that satisfied the predefined inclusion criteria. Meta analysis was not possible due to the heterogeneity of the data. The overall success rate of the immediate loading of a single implant is 94.31%. Implants in the maxillary region had a higher survival rate than those in the mandibular region. The age range between 18 and 80 years showed good prognosis and outcomes in older individuals. Good oral hygiene was emphasized for all patients to prevent any secondary conditions or delays in healing.


Assuntos
Anodontia , Implantes Dentários , Carga Imediata em Implante Dentário , Perda de Dente , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Pessoa de Meia-Idade , Adulto Jovem , Prótese Dentária Fixada por Implante , Carga Imediata em Implante Dentário/métodos , Perda de Dente/cirurgia
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