RESUMO
In this case-control study, we aimed to investigate the specific oral pathogens potentially associated with the mobile microbiome in children with congenital heart disease (CHD). Caries, oral hygiene and gingival indices were evaluated in 20 children with CHD and a healthy control group, and venous blood samples and saliva were collected. Using quantitative polymerase chain reaction (qPCR), blood samples were analyzed for the presence of bacterial DNA to determine the mobile microbiome, and saliva samples were analyzed to identify and quantify target microorganisms, including Streptococcus mutans (Sm) and its serotype k (Smk), Fusobacterium. nucleatum (Fn), Porphyromonas gingivalis (Pg), Scardovia wiggsiae (Sw) and Aggregitibacter actinomycetemcomitans (Aa) and its JP2 clone (JP2). The findings were analyzed by Mann Whitney U, chi-square, Fisher's exact and Spearman's Correlation tests. Bacterial DNA was identified in two blood samples. No significant differences were found between the groups regarding the presence and counts of bacteria in saliva. However, the CHD group exhibited significantly lower caries and higher gingival index scores than the control group. The presence of Pg and Aa were significantly associated with higher gingival index scores. Sm and Smk counts were significantly correlated with caries experience. A positive correlation was found between Fn and total bacteria counts. In conclusion, the mobile microbiome, which has been proposed as a potential marker of dysbiosis at distant sites, was very rare in our pediatric population. The counts of target microorganisms which are potentially associated with the mobile microbiome did not differ in children with CHD and healthy children.
Assuntos
Cárie Dentária , Cardiopatias Congênitas , Microbiota , Humanos , Criança , DNA Bacteriano/análise , Estudos de Casos e Controles , Saliva/química , Porphyromonas gingivalis , Cárie Dentária/microbiologia , Streptococcus mutans , Fusobacterium nucleatumRESUMO
BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2. Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. METHODS: We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data. The deleterious effect of selected variants of uncertain significance was evaluated by cellular assays. MAIN RESULTS: We identified pathogenic variants in EVC/EVC2 in affected individuals from 41 of the 43 families with EvC. Patients from each of the two remaining families were found with a homozygous splicing variant in WDR35 and a de novo heterozygous frameshift variant in GLI3, respectively. The phenotype of these patients showed a remarkable overlap with EvC. A novel EVC2 C-terminal truncating variant was identified in the family with WAD. Deep phenotyping of the cohort recapitulated 'classical EvC findings' in the literature and highlighted findings previously undescribed or rarely described as part of EvC. CONCLUSIONS: This study presents the largest cohort of living patients with EvC to date, contributing to better understanding of the full clinical spectrum of EvC. We also provide comprehensive information on the EVC/EVC2 mutational landscape and add GLI3 to the list of genes associated with EvC-like phenotypes.
Assuntos
Síndrome de Ellis-Van Creveld , Linhagem , Fenótipo , Humanos , Síndrome de Ellis-Van Creveld/genética , Síndrome de Ellis-Van Creveld/patologia , Masculino , Feminino , Criança , Proteínas de Membrana/genética , Mutação , Pré-Escolar , Proteína Gli3 com Dedos de Zinco/genética , Adolescente , Adulto , Proteínas do Tecido Nervoso/genética , Estudos de Coortes , Lactente , Proteínas/genética , Estudos Retrospectivos , Peptídeos e Proteínas de Sinalização IntercelularRESUMO
BACKGROUND: As calcium silicate-based cements (CSCs) have found success in various vital pulp therapy applications, several new CSC products have emerged. This study aimed to assess the genotoxicity, cytotoxicity, and bioactivity of four CSCs by comparing the newly introduced materials Bio MTA+ and MTA Cem with previously studied materials, Biodentine and NeoMTA. METHODS: Genotoxicity was evaluated using the micronucleus (MN) assay in human peripheral blood lymphocyte cells, measuring MN frequency and nuclear division index (NDI). Cytotoxicity was assessed in human dental pulp stem cells through the Water-Soluble Tetrazolium Salt-1 (WST-1) colorimetric assay. Bioactivity was determined by ELISA, measuring the levels of angiogenic and odontogenic markers (BMP-2, FGF-2, VEGF, and ALP). Statistical analyses included ANOVA, Dunnet and Sidak tests, and Wald chi-square test. (p < .05). RESULTS: The MN frequency in the groups was significantly lower than that in the positive control group (tetraconazole) (p < .05). NDI values decreased with increasing concentration (p < .05). Bio MTA+ and NeoMTA showed decreased cell viability at all concentrations in 7-day cultures (p < .01). All materials increased BMP-2, FGF-2, and VEGF levels, with Biodentine and NeoMTA showing the highest levels of BMP-2 and FGF-2 on day 7. Biodentine displayed the highest VEGF levels on day 7. Biodentine and NeoMTA groups exhibited significantly higher ALP activity than the Bio MTA+ and MTA Cem groups by day 7. CONCLUSION: Bio MTA+ and MTA Cem demonstrated no genotoxic or cytotoxic effects. Moreover, this study revealed bioactive potentials of Bio MTA+ and MTA Cem by enhancing the expression of angiogenic and osteogenic growth factors.
Assuntos
Fator 2 de Crescimento de Fibroblastos , Fator A de Crescimento do Endotélio Vascular , Humanos , Teste de Materiais , Óxidos/toxicidade , Compostos de Cálcio/toxicidade , Silicatos/toxicidade , Combinação de Medicamentos , Compostos de Alumínio , Cimentos Dentários/toxicidadeRESUMO
BACKGROUND: Nance-Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features. CASE PRESENTATION: We report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild intellectual disability, and dental findings including Hutchinson incisors, supernumerary teeth, bud-shaped molars received clinical diagnosis of NHS and targeted NHS gene sequencing revealed a novel pathogenic variant, c.2416 C > T; p.(Gln806*). In Family 2, index (P2) presenting with global developmental delay, microphthalmia, cataracts, and ventricular septal defect underwent SNP array testing and a novel deletion encompassing 22 genes including the NHS gene was detected. In Family 3, two half-brothers (P3 and P4) and maternal uncle (P5) had congenital cataracts and mild to moderate intellectual deficiency. P3 also had autistic and psychobehavioral features. Dental findings included notched incisors, bud-shaped permanent molars, and supernumerary molars. Duo-WES analysis on half-brothers showed a hemizygous novel deletion, c.1867delC; p.(Gln623ArgfsTer26). CONCLUSIONS: Dental professionals can be the first-line specialists involved in the diagnosis of NHS due to its distinct dental findings. Our findings broaden the spectrum of genetic etiopathogenesis associated with NHS and aim to raise awareness among dental professionals.
Assuntos
Catarata , Doenças Genéticas Ligadas ao Cromossomo X , Deficiência Intelectual , Dente Supranumerário , Masculino , Feminino , HumanosRESUMO
WNT/ß-catenin and BMP signaling pathways play important roles in the process of tooth development. Dysregulation of WNT/ß-catenin and BMP signaling is implicated in a number of human malformations, including dental anomalies. Whole exome and Sanger sequencing identified seven patients with LRP5 mutations (p.Asn1121Asp, p.Asp856Asn, p.Val1433Met, and p.Val1245Met) and six patients with BMP4 mutations (p.Asn150Lys, p.Gly168Arg, p.Arg269Gln, and p.Ala42Glu). All patients were affected with isolated dental anomalies (dental anomalies with no other structural defects), including mesiodens, tooth agenesis, unseparated roots, narrow roots, shortened and tapered roots, and taurodontism. Five patients with LRP5 and one with BMP4 mutations had oral exostoses. Protein models of LRP5 mutations indicate the possible functional effects of the mutations. Here we report for the first time that mutations in LRP5 are associated with dental anomalies. LRP5 appears to be the first gene related to pathogenesis of mesiodens. We also show for the first time that in addition to tooth agenesis, mutations in BMP4 are also implicated in root maldevelopment and torus mandibularis. Sharing of the phenotypes of the patients with LRP5 and BMP4 mutations, which include root maldevelopment, tooth agenesis, and torus mandibularis, implicates cross talks between the WNT/ß-catenin and BMP signaling pathways, especially during root development.
Assuntos
Anodontia , Proteína Morfogenética Óssea 4 , Exostose , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade , Anormalidades Dentárias , Anodontia/genética , Proteína Morfogenética Óssea 4/genética , Exostose/genética , Humanos , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Mutação , Anormalidades Dentárias/genética , beta Catenina/genéticaRESUMO
Mutations in LTBP3 are associated with Dental Anomalies and Short Stature syndrome (DASS; MIM 601216), which is characterized by hypoplastic type amelogenesis imperfecta, hypodontia, underdeveloped maxilla, short stature, brachyolmia, aneurysm and dissection of the thoracic aorta. Here we report a novel (p.Arg545ProfsTer22) and a recurrent (c.3107-2A > G) LTBP3 variants, in a Turkish family affected with DASS. The proband, who carried compound heterozygous variant c.3107-2A > G, p.Arg545ProfsTer22, was most severely affected with DASS. The proband's father, who carried the heterozygous variant c.3107-2A > G had short stature and prognathic mandible. The mother and brother of the proband carried the heterozygous variant p.Arg545ProfsTer22, but only the mother showed any DASS characteristics. The c.3107-2A > G and the p.Arg545ProfsTer22 variants are expected to result in abnormal LTPB3 protein, failure of TGFß-LAP-LTBP3 complex formation, and subsequent disruption of TGFß secretion and activation. This is the first report of heterozygous carriers of LTBP3 variants showing phenotypes. The new findings of DASS found in this family include taurodontism, single-rooted molars, abnormal dentin, calcified dental pulp blood vessels, prognathic mandible, failure of mandibular tooth eruption, interatrial septal aneurysm, secundum atrial septal defect, tricuspid valve prolapse, and a recurrent glenohumeral joint dislocation.
Assuntos
Amelogênese Imperfeita , Nanismo , Osteocondrodisplasias , Anormalidades Dentárias , Amelogênese Imperfeita/genética , Nanismo/genética , Humanos , Proteínas de Ligação a TGF-beta Latente/genética , Masculino , Osteocondrodisplasias/genética , Fenótipo , Anormalidades Dentárias/genética , Fator de Crescimento Transformador beta/genéticaRESUMO
BACKGROUND: Mutations in SLC4A4 have been reported to be associated with proximal renal tubular acidosis (RTA), short stature, band keratopathy, cataract, glaucoma, and hypoplastic-type amelogenesis imperfecta. In this study, the authors describe the clinical manifestations, and investigate the molecular etiology, in a patient with RTA. CASE DESCRIPTION: The authors report on a girl with distal RTA who carried a novel homozygous base substitution of 2 consecutive base pair variants (NM_001098484.3:c.808-2A>C and NM_001098484.3:c.808-1G>C) in the SLC4A4 gene. The patient had clinical manifestations of autoimmune thyroiditis and distal RTA, including hypercalciuria, nephrocalcinosis, and nephrolithiasis. In addition to the presence of hypoplastic-type amelogenesis imperfecta, generalized enamel hypomaturation, a feature seen in mice lacking Slc4a4, was also observed in the patient. The basic defect in this patient appeared to be impaired hydrogen ion secretion, leading to an inability to acidify the urine, resulting in alkaline urine (despite a normal serum anion gap), hypokalemic, and hyperchloremic metabolic acidosis. The pulp stones found in the patient may likely be the consequences of a disrupted acid-base homeostatic environment that precipitated mineral deposits. Even with proper treatments for distal RTA, the patient has had frequent recurrences of band keratopathy, pupillary membrane, and cataract. PRACTICAL IMPLICATIONS: This is the first report of distal RTA, autoimmune thyroiditis, tooth agenesis, enamel hypomaturation, and pulp stones associated with an SLC4A4 mutation. It is important for dentists to be aware that amelogenesis imperfecta in patients may be a sign of systemic diseases including RTA, nephrocalcinosis, or nephrolithiasis.
Assuntos
Acidose Tubular Renal , Amelogênese Imperfeita , Catarata , Calcificações da Polpa Dentária , Nefrocalcinose , Nefrolitíase , Tireoidite Autoimune , Acidose Tubular Renal/complicações , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/genética , Amelogênese Imperfeita/complicações , Amelogênese Imperfeita/genética , Animais , Catarata/complicações , Distrofias Hereditárias da Córnea , Esmalte Dentário , Calcificações da Polpa Dentária/complicações , Humanos , Camundongos , Nefrocalcinose/complicações , Nefrolitíase/complicações , Nucleotídeos/metabolismo , Simportadores de Sódio-Bicarbonato/genética , Tireoidite Autoimune/complicaçõesRESUMO
Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates embryonic epithelial-mesenchymal interactions. Anecdotal reports have described abnormal orodental findings in FS, but no study has as yet addressed the orodental findings of FS systematically. We reviewed dental radiographs of 10 unrelated patients with FS of different genetic etiologies. Dental anomalies were present in all patients with FS and included hypodontia, dental crowding, medial diastema, and retained teeth. A very consistent pattern of shortened dental roots of most permanent teeth as well as altered length/width ratio with shortened dental crowns of upper incisors was also identified. These findings suggest that the FRAS1-FREM complex mediates critical mesenchymal-epithelial interactions during dental crown and root development. The orodental findings of FS reported herein represent a previously underestimated manifestation of the disorder with significant impact on orodental health for affected individuals. Integration of dentists and orthodontists into the multidisciplinary team for management of FS is therefore recommended.
Assuntos
Síndrome de Fraser/etiologia , Coroa do Dente/anormalidades , Raiz Dentária/anormalidades , Adolescente , Adulto , Anodontia , Proteínas de Transporte/genética , Criança , Proteínas da Matriz Extracelular/genética , Feminino , Síndrome de Fraser/genética , Humanos , Incisivo/anormalidades , Masculino , Má Oclusão , Proteínas do Tecido Nervoso/genética , Radiografia Panorâmica , Coroa do Dente/crescimento & desenvolvimentoRESUMO
OBJECTIVE: The aim of this in vitro study was to assess the antimicrobial properties of newly formulated toothpastes (four toothpastes for adults and two toothpastes for kids/babies) and a mouthrinse. MATERIALS AND METHODS: Newly formulated six different toothpastes and one mouthrinse of a single brand and commercially available five toothpastes and three mouthrinse were investigated for their antimicrobial activity against two oral pathogens, Streptococcus mutans and Candida albicans, by agar well diffusion assay. After incubation, the inhibition zone diameters were measured in millimeters and statistical analyses were performed. RESULTS: All experimental adult toothpastes exhibited good antimicrobial activity against S. mutans and C. albicans except the experimental toothpaste D. Experimental toothpaste B exhibited the highest antibacterial activity against C. albicans and S. mutans. Experimental toothpaste for kids showed the best antimicrobial activity against S. mutans when kids' toothpastes were compared. None of the tested toothpastes for kids/babies showed antibacterial effects for C. albicans. Among the mouthrinse tested, Sensodyne mouthrinse showed the best results. Experimental mouthrinse showed significantly lower antibacterial activity against S. mutans then Sensodyne, Eludril, and chlorhexidine mouthrinse. CONCLUSION: Although experimental toothpaste and mouthrinse formulations revealed good results in terms of antimicrobial activity to some specific microorganisms, further studies involving more bacterial species or analyzing the quality and efficacy of these products by other in vitro or in vivo tests are needed.
RESUMO
Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in an X-linked, autosomal dominant, or autosomal recessive pattern and caused by the pathogenic variants in 4 genes: EDA, EDAR, EDARADD, and WNT10A. The aim of the present study was to perform molecular screening of these 4 genes in a cohort of Turkish individuals diagnosed with HED/EDA. We screened for pathogenic variants of WNT10A, EDA, EDAR, and EDARADD through Sanger sequencing. We further assessed the clinical profiles of the affected individuals in order to establish phenotype-genotype correlation. In 17 (63%) out of 27 families, 17 pathogenic variants, 8 being novel, were detected in the 4 well-known ectodermal dysplasia genes. EDAR and EDA variants were identified in 6 families each, WNT10A variants in 4, and an EDARADD variant in 1, accounting for 35.3, 35.3, 23.5, and 5.9% of mutation-positive families, respectively. The low mutation detection rate of the cohort and the number of the EDAR pathogenic variants being as high as the EDA ones were the most noteworthy findings which could be attributed to the high consanguinity rate.
Assuntos
Displasia Ectodérmica/genética , Ectodisplasinas/genética , Receptor Edar/genética , Proteína de Domínio de Morte Associada a Edar/genética , Mutação , Análise de Sequência de DNA/métodos , Proteínas Wnt/genética , Consanguinidade , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Linhagem , Fenótipo , TurquiaRESUMO
PURPOSE: The aim of this study was to investigate the prevalence and characteristics of ectopically erupting first permanent molars (FPMs) in children attending the clinics of the Pediatric Dentistry Department at Istanbul University. MATERIALS AND METHODS: This retrospective study was performed using panoramic radiographs of 7,649 patients (3,506 females and 4,143 males) aged from 5 to 11 years. The age and gender of the subjects, the number and location of the ectopic molars, bilateral versus unilateral occurrence, the degree of resorption of the roots of the primary molars, and other associated dental anomalies were assessed. Ectopic eruption was categorized according to a grading system based on the resorption rates of the primary molars. RESULTS: Of the 7,649 reviewed subjects, 203 (118 males and 85 females) were diagnosed with ectopic eruption of the FPMs, resulting in a frequency of 2.65%. The mean age of the subjects with ectopic FPMs was 6.82±1.25 (range: 5-11) years. Of the 273 ectopic FPMs, 157 (57.5%) were detected in the maxilla and 116 (42.5%) in the mandible. Severe and very severe degrees of ectopic eruption were found to be more common in the maxilla than in the mandible, whereas a moderate degree of ectopic eruption was more prevalent in the mandible (p=0.251). CONCLUSION: To our knowledge, this is the first study in a Turkish population reporting the prevalence of ectopic eruption of FPMs. Although the difference between the right and the left sides was not significant, the severity of ectopic eruption was different between the maxilla and the mandible.
RESUMO
CONTEXT: Knowledge of the microbial composition of abscessed primary tooth is limited. AIM: The aim was to investigate the presence of 10 oral bacterial species in samples from abscessed primary tooth root canals using microarray technology and to determine their association with clinical findings. SUBJECTS AND METHODS: The samples were collected from root canals of 20 primary molars with acute primer infection. The bacterial composition of the samples was semi-quantitatively defined using a microarray system (ParoCheck®). Clinical parameters included the presence of spontaneous pain, mobility, percussion sensitivity and swelling. STATISTICAL ANALYSIS: Data were statistically analyzed by Student' t-test, Fisher's exact Chi-square test, Freeman-Halton-Fisher's exact test, and Spearman's rho correlation analysis. RESULTS: All the tested species were detected in the samples. Fusobacterium nucleatum was the most frequent bacterium (100%), followed by Parvimonas micra (65%), Provetella intermedia (45%), and Treponema denticola (45%). According to paired bacterial combinations, F. nucleatum was significantly positively correlated with P. intermedia and P. micra (P < 0.05). T. denticola was significantly positively correlated with Porphyromonas gingivalis, Tannerella forsythia, Campylobacter rectus, and P. micra, while it was negatively correlated with Eikenella corrodens (P < 0.05). No statistically significant relationships were found between the presence of any bacteria and clinical findings. CONCLUSION: Microarray technology used in this study has demonstrated the presence of various bacteria with varying proportions in the root canals of abscessed primary teeth. The results regarding the high rate of certain bacterial combinations suggest the enhanced pathogenicity due to additive or synergistic effects of these microbial combinations.
Assuntos
Cavidade Pulpar/microbiologia , Fusobacterium nucleatum/isolamento & purificação , Dente Molar/microbiologia , Abscesso Periodontal/microbiologia , Prevotella intermedia/isolamento & purificação , Dente Decíduo/microbiologia , Treponema denticola/isolamento & purificação , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Análise em MicrossériesRESUMO
Tooth agenesis (TA), the failure of development of one or more permanent teeth, is a common craniofacial abnormality observed in different world populations. The genetic etiology of TA is heterogeneous; more than a dozen genes have been associated with isolated or nonsyndromic TA, and more than 80 genes with syndromic forms. In this study, we applied whole exome sequencing (WES) to identify candidate genes contributing to TA in four Turkish families. Likely pathogenic variants with a low allele frequency in the general population were identified in four disease-associated genes, including two distinct variants in TSPEAR, associated with syndromic and isolated TA in one family each; a variant in LAMB3 associated with syndromic TA in one family; and a variant in BCOR plus a disease-associated WNT10A variant in one family with syndromic TA. With the notable exception of WNT10A (Tooth agenesis, selective, 4, MIM #150400), the genotype-phenotype relationships described in the present cohort represent an expansion of the clinical spectrum associated with these genes: TSPEAR (Deafness, autosomal recessive 98, MIM #614861), LAMB3 (Amelogenesis imperfecta, type IA, MIM #104530; Epidermolysis bullosa, junctional, MIMs #226700 and #226650), and BCOR (Microphthalmia, syndromic 2, MIM #300166). We provide evidence supporting the candidacy of these genes with TA, and propose TSPEAR as a novel nonsyndromic TA gene. Our data also suggest potential multilocus genomic variation, or mutational burden, in a single family, involving the BCOR and WNT10A loci, underscoring the complexity of the genotype-phenotype relationship in the common complex trait of TA.
Assuntos
Anodontia/genética , Moléculas de Adesão Celular/genética , Marcadores Genéticos , Mutação , Proteínas/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Repressoras/genética , Proteínas Wnt/genética , Anodontia/epidemiologia , Anodontia/patologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem , Fenótipo , Turquia/epidemiologia , CalininaRESUMO
Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and potentially subtle variants in these genes contribute to the TA phenotype. We report the clinical and genetic impact of a rare homozygous ANTXR1 variant (c.1312C>T), identified by whole exome sequencing (WES), in a consanguineous Turkish family with TA. Mutations in ANTXR1 have been associated with GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) syndrome and infantile hemangioma, however no clinical characteristics associated with these conditions were observed in our study family. We detected the expression of Antxr1 in oral and dental tissues of developing mouse embryos, further supporting a role for this gene in tooth development. Our findings implicate ANTXR1 as a candidate gene for isolated TA, suggest the involvement of specific hypomorphic alleles, and expand the previously known ANTXR1-associated phenotypes.
Assuntos
Alelos , Anodontia/diagnóstico , Anodontia/genética , Estudos de Associação Genética , Mutação , Proteínas de Neoplasias/genética , Fenótipo , Receptores de Superfície Celular/genética , Substituição de Aminoácidos , Animais , Criança , Consanguinidade , Fácies , Genótipo , Humanos , Masculino , Camundongos , Proteínas dos Microfilamentos , Linhagem , Radiografia , Sequenciamento do ExomaRESUMO
OBJECTIVE: The aim of this study was to evaluate and compare, both clinically and radiographically, the effects of calcium silicate-based materials (i.e., ProRoot MTA [PR-MTA], MTA-Plus [MTA-P], and Biodentine [BD]) and ferric sulfate [FS] in pulpotomy of primary molars. MATERIALS AND METHODS: In this randomized clinical trial, 29 healthy 5- to 7-year-old children with at least four carious primary molars with no clinical or radiographic evidence of pulp degeneration were enrolled. The pulpotomy agents were assigned as follows: Group 1: BD; Group 2: MTA-P; Group 3: PR-MTA; and Group 4: FS. Clinical and radiographic evaluations were performed at 6, 12, and 24 months. Data were analyzed using chi-square tests. RESULTS: Total success rates at 24 months were 82.75%, 86.2%, 93.1%, and 75.86%, respectively. No statistically significant differences in total success rates were observed among the groups at 6-, 12-, and 24-month follow-ups. When the groups were compared according to follow-up times, the success rates in each group did not vary significantly among the 6-12-month, 6-24-month, or 12-24-month periods (p > 0.05). CONCLUSION: Although the success rates of BD, MTA-P, MTA-PR, and FS did not differ significantly, calcium silicate-based materials appeared to be more appropriate than FS in clinical practice.
Assuntos
Compostos de Cálcio/uso terapêutico , Dente Molar/cirurgia , Silicatos/uso terapêutico , Criança , Pré-Escolar , Cárie Dentária/cirurgia , Feminino , Compostos Férricos/uso terapêutico , Seguimentos , Humanos , Masculino , Pulpotomia/métodos , Dente Decíduo/cirurgia , TurquiaRESUMO
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis. The other had a novel homozygous missense mutation in exon 10, mild gingival fibromatosis and renal calcifications. The periodontitis in our patients may be a syndrome component, and similar findings in previous reports suggest more than coincidence. Fam20a is an allosteric activator that increases Fam20c kinase activity. It is hypothesized that lack of FAM20A activation of FAM20C in our patients with FAM20A mutations might have caused amelogenesis imperfecta, abnormal bone remodeling and periodontitis. Nephrocalcinosis appears not to be a consistent finding of the syndrome and the missense mutation may correlate with mild gingival fibromatosis. Here we report three patients with homozygous or compound heterozygous mutations in FAM20A and findings that extend the phenotypic spectrum of this disorder, showing that protein truncation is associated with greater clinical severity.
Assuntos
Proteínas do Esmalte Dentário/genética , Mutação/genética , Doenças Periodontais/genética , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Modelos Moleculares , Linhagem , Doenças Periodontais/diagnóstico por imagemRESUMO
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del).
Assuntos
Displasia Cleidocraniana/genética , Subunidade alfa 1 de Fator de Ligação ao Core/genética , Osteoporose/genética , Adolescente , Adulto , Estatura/genética , Densidade Óssea/genética , Criança , Pré-Escolar , Clavícula/patologia , Displasia Cleidocraniana/patologia , Fácies , Feminino , Transtornos do Crescimento/genética , Humanos , Masculino , Má Oclusão/genética , Pessoa de Meia-Idade , Osteoporose/complicaçõesRESUMO
Objective. The aim of this in vitro study was to evaluate the long-term fracture resistance of simulated human immature permanent teeth filled with BioAggregate™ (BA), mineral trioxide aggregate (MTA), and EndoSequence® Root Repair Material (ERRM). Material and Methods. 40 teeth, simulated to average root length of 13 ± 1 mm (Cvek's stage 3), were included in the study. The teeth were randomly divided into four groups: Group 1: DiaRoot® BA, Group 2: MTA-Plus™ (MTA-P), Group 3: MTA-Angelus (MTA-A), and Group 4: ERRM. The root canal filling materials were applied according to the manufacturers' instructions. After 24 months of incubation, the roots of the teeth were embedded in acrylic blocks and subjected to fracture testing. The resultant data were analyzed statistically by Kruskal-Wallis and Mann-Whitney U tests. Results. Mean (±SD) failure loads (MPa) were 20.46 ± 2.53 for BA, 18.88 ± 5.13 for MTA-P, 14.12 ± 1.99 for MTA-A, and 17.65 ± 4.28 for ERRM groups. BA group exhibited the highest and MTA-A group showed the lowest resistance to fracture. Significant differences in fracture resistance were found between the groups of BA and MTA-A (p < 0.001), MTA-P and MTA-A (p < 0.05), and ERRM and MTA-A (p < 0.05). Conclusion. Within the limitations of this study, data suggests that BA-filled immature teeth demonstrate higher fracture resistance than other groups at 24 months appearing to be the most promising material tested.
Assuntos
Compostos de Cálcio/farmacologia , Materiais Restauradores do Canal Radicular/farmacologia , Silicatos/farmacologia , Fraturas dos Dentes/patologia , Força Compressiva/efeitos dos fármacos , Humanos , Fatores de Tempo , Colo do Dente/efeitos dos fármacosRESUMO
BACKGROUND: Talon cusp is a rare dental anomaly characterized by a cusp-like projection, often including the palatal surface of the affected tooth. The aim of the present study was to investigate the prevalence and characteristics of talon cusps in a group of Turkish children. MATERIALS AND METHODS: The study population consisted of 14,400 subjects who attended the clinics of the Department of Pediatric Dentistry at the Istanbul University, Istanbul, Turkey. Subjects ranged in age from 1 to 14 years with a mean age of 10.5 ± 2.55 years. Talon cusps were mainly categorized by visual examination according to the classification of Hattab et al. The distribution and frequency of talon cusps were calculated with respect to dentition type, tooth type, talon type, the affected surface, associated dental anomalies, and clinical complications. Statistical analysis included descriptive statistics, frequencies, and crosstabs with Chi-square analysis. RESULTS: Talon cusps were detected in 49 subjects (26 males and 23 females) of 14,400 (0.34%). A total of 108 teeth showed talon cusps. Distribution of talon cusps according to gender showed no statistically significant differences. The incidence of talon cusps was found to be greater in maxillary lateral incisors (53.7%) than central incisors (29.62%). Regarding the type of talon cusp, 47.22% of teeth showed a Type III talon cusp, whereas 30.55% of teeth demonstrated a Type II talon and 22.22% of teeth demonstrated a Type I talon cusp. Nine patients (18.36%) with talon cups also exhibited other developmental dental anomalies. Clinical complications associated with talon cusps were detected as caries formation and occlusal interference. CONCLUSION: This is the most comprehensive study of the prevalence of talon cusps in Turkish population using the largest sample size to date. Also, taurodontism associated with a talon cusp has been reported here for the 1(st) time. Clinical complications associated with talon cusps need more investigations.
RESUMO
The principles of management of mandibular fractures differ in children when compared to adults and depend on the specific age-related status of the growing mandible and the developing dentition. This paper presents a case report with a complex facial trauma affecting the mandibular body and condyle region and dentoalveolar complex. Clinical examination revealed soft tissue injuries, limited mouth opening, lateral deviation of the mandible, an avulsed incisor, a subluxated incisor, and a fractured crown. CBCT examination revealed a nondisplaced fracture and an oblique greenstick fracture of the mandibular body and unilateral fracture of the condyle. Closed reduction technique was chosen to manage fractures of the mandible. Favorable healing outcomes on multiple fractures of the mandible throughout the 6-year follow-up period proved the success of the conservative treatment. This case report is important since it presents a variety of pathological sequelae to trauma within one case.