RESUMO
BACKGROUND: Studies try to explain the hypothesis that maternal periodontitis may be associated with preterm birth. MATERIAL AND METHODS: This is a case-control study with 120, 40 cases (gestational age <37 weeks) and 80 controls (gestational age ≥37 weeks), that were submitted to the clinical periodontal examination and subgingival biofilm collection. Bacterial DNA of subgingival biofilm was performed and processed by qPCR. RESULTS: Periodontitis was statistically significant in the Case group (35%) when compared to the Control group (11.2%) and Gingival Bleeding Index (GBI), sites with PS ≥ 4mm and sites with CAL ≥ 5mm were statistically higher in the Case group (p < 0.05). The proportions of Pi (p = 0.026) and Fn (p = 0.041) of subgingival biofilm were higher in the Case group. A greater number of sites with PS ≥ 4mm (r = -0.202; p = 0.026) and CAL ≥ 5mm (r = -0.322; p < 0.001) were correlated to lower gestational age. CONCLUSIONS: Periodontitis, preterm delivery, and/or low birth weight may have a possible relationship based on clinical parameters and the ratio of Pi and Fn at periodontal sites.
Assuntos
Periodontite , Nascimento Prematuro , Recém-Nascido , Humanos , Feminino , Lactente , Fusobacterium nucleatum , Prevotella , Estudos de Casos e Controles , Periodontite/complicaçõesRESUMO
BACKGROUND: Adverse reactions, caused during the inflammation and healing process, or even later, can be induced by the injection of dermal filler and can present a variety of clinical and histological characteristics. In this study we aimed to review the adverse reactions associated with the injection of aesthetic filling materials in the face and neck. MATERIAL AND METHODS: The review was reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist. Studies published that mentioned adverse reactions in patients with aesthetic filling materials in the face or neck were included. Risk of bias was assessed using the Joanna Briggs Institute appraisal tool. After a 2-step selection process, 74 studies were included: 51 case reports, 18 serial cases, and five cohorts. RESULTS: A total of 303 patients from 20 countries were assessed. Lesions were more prevalent in the lip (18%), nasolabial folds (13%), cheeks (13%), chin (10%), submental (8%), glabella (7%), and forehead (6%). Histopathological analysis revealed a foreign body granuloma in 87.1% of the patients, 3% inflammatory granuloma, 3% lipogranuloma, 2.3% xanthelasma-like reaction, 1% fibrotic reaction, 0.7% amorphous tissues, 0.7% xanthelasma, 0.3% sclerosing lipogranuloma, 0.3% siliconoma, and 0.3% foreign body granuloma with scleromyxedema. In addition, two patients displayed keratoacanthoma and two others displayed sarcoidosis after cutaneous filling. The most commonly used materials were silicone fillers (19.7%), hyaluronic acid (15.5%), and hydroxyethyl methacrylate/ethyl methacrylate suspended in hyaluronic acid acrylic hydrogel (5.6%). All patients were treated, and only 12 had prolonged complications. CONCLUSIONS: There is evidence that adverse reaction can be caused by different fillers in specific sites on the face. Although foreign body granuloma was the most common, other adverse lesions were diagnosed, exacerbating systemic diseases. In this way, we reinforce the importance of previous systemic evaluations and histopathological analyses for the correct diagnosis of lesions.
Assuntos
Técnicas Cosméticas , Granuloma de Corpo Estranho , Humanos , Granuloma de Corpo Estranho/induzido quimicamente , Granuloma de Corpo Estranho/patologia , Técnicas Cosméticas/efeitos adversos , Ácido Hialurônico/efeitos adversos , Estética Dentária , Polimetil MetacrilatoRESUMO
Using genetic, clinical, biochemical, and radiographic assessment and bioinformatic approaches, we present an unusual case of adult HPP caused by a novel de novo heterozygous nonsense mutation in the alkaline phosphatase (ALPL). INTRODUCTION: Hypophosphatasia (HPP) is caused by genetic alterations of the ALPL gene, encoding the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Here, the purpose was to perform clinical and molecular investigation in a 36-year-old Caucasian woman suspected to present adult HPP. METHODS: Medical and dental histories were obtained for the proposita and family members, including biochemical, radiographic, and dental assessments. ALPL mutational analysis was performed by the Sanger sequencing method, and the functional impact prediction of the identified mutations was assessed by bioinformatic methods. RESULTS: We identified a novel heterozygous nonsense mutation in the ALPL gene (NM_000478.6:c.768G>A; W[TGG]>*[TGA]) associated with spontaneous vertebral fracture, severe back pain, musculoskeletal pain, low bone density, and short-rooted permanent teeth loss. Functional prediction analysis revealed that the Trp256Ter mutation led to a complete loss of TNSALP crown domain and extensive loss of other functional domains (calcium-binding domain, active site vicinity, and zinc-binding site) and over 60% loss of homodimer interface residues, suggesting that the mutant TNSALP molecules are nonfunctional and form unstable homodimers. Genotyping of the ALPL in the proposita's parents, sister, and niece revealed that in this case, HPP occurred due to a de novo mutation. CONCLUSION: The present study describes a novel genotype-phenotype and structure-function relationship for HPP, contributing to a better molecular comprehension of HPP etiology and pathophysiology.
Assuntos
Fosfatase Alcalina , Hipofosfatasia , Adulto , Fosfatase Alcalina/genética , Códon sem Sentido , Análise Mutacional de DNA , Feminino , Heterozigoto , Humanos , Hipofosfatasia/diagnóstico por imagem , Hipofosfatasia/genética , MutaçãoRESUMO
OBJECTIVES: MicroRNAs play a role in the development and progression of head and neck squamous cell carcinomas (HNSCC). Our aim was to study the expression of miR-26, miR-107, miR-125b, and miR-203 in primary HNSCC with and without lymph node metastasis and their clinicopathological significance. MATERIALS AND METHODS: The expression of microRNAs in primary HNSCC with lymph node metastasis (n = 16) and their matched lymph node, as well as primary tumors without metastasis (n = 16), were determined by quantitative RT-PCR and analyzed with clinicopathological features and survival. RESULTS: The expression levels of miR-26 (p < .05) and miR-125b (p < .01) were higher in metastatic primary HNSCC, while levels of miR-203 (p < .01) were lower. The expression of the microRNAs was associated with clinicopathological features, including miR-26 high expression and N stage (p = .04), poor differentiation (p = .005) and recurrence (p = .007), miR-125b high expression and N stage (p = .0005) and death (p = .02), and low levels of miR-203 and N stage (p = .04). The high expression of miR-26 was associated with shortened disease-free survival, and high miR-125b expression was an independent risk factor for poor disease-specific survival. CONCLUSIONS: These findings suggest that miR-26 and miR-125b may be associated with the progression and metastasis of HNSCC and that miR-203 is associated with a more favorable prognosis.
Assuntos
Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/secundário , Neoplasias de Cabeça e Pescoço/genética , Neoplasias de Cabeça e Pescoço/patologia , MicroRNAs/genética , Idoso , Intervalo Livre de Doença , Feminino , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Taxa de SobrevidaRESUMO
The population of Brazil is highly admixed, with each individual showing variable levels of Amerindian, European and African ancestry, which may interfere in the genetic susceptibility of known risk loci to nonsyndromic cleft lip with or without cleft palate (NSCL±P). Here, we investigated 5 reported genome-wide loci for NSCL±P in an ancestry-structured case-control study containing 1697 Brazilian participants (831 NSCL±P and 866 healthy controls). SNPs rs7552 in 2q24.2, rs8049367 in 16p13.3, rs1880646, rs7406226, rs9891446 in 17p13, rs1588366 in 17q23.2 and rs73039426 in 19q13.11 were genotyped using TaqMan allelic discrimination assays and genomic ancestry was estimated using a panel of 40 biallelic short insertion/deletion polymorphic markers informative of the Brazilian population. Logistic regression analysis of the single-markers revealed rs7552 in 2p24.2 as a susceptibility risk marker for NSCL±P, yielding an odds ratio (OR) of 1.71 (95% confidence interval (CI): 1.31-2.24, P = 9 × 10-6 ) in the homozygous state. Several SNP-SNP interactions containing rs7552 reached significance after adjustment for multiple tests (both Bonferroni assumption and 1000 permutation test), with the most significant interaction involving the 3-loci among rs7552, rs9891446 and rs73039426 (P = 6.1 × 10-9 and p1000 permutation = 0.001). Our study is the first to support the association of rs7552 in 2p24.2 with NSCL±P in the highly admixed Brazilian population.
Assuntos
Fenda Labial/complicações , Fenda Labial/genética , Fissura Palatina/complicações , Fissura Palatina/genética , Loci Gênicos , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Brasil , Epistasia Genética , Humanos , Redução Dimensional com Múltiplos FatoresRESUMO
In oral cancer, acquisition of α-smooth muscle actin (α-SMA)-positive fibroblasts, known as myofibroblasts or carcinoma-associated fibroblasts (CAF), is an important event for progression and metastasis. However, the contribution of myofibroblasts in oral potentially malignant disorders (OPMD) remains controversial. This systematic review provides evidence that immunodetection of myofibroblasts may identify oral submucous fibrosis (OSMF) with high risk of malignant transformation, but does not represent an auxiliary tool to predict the malignant potential of leukoplakia and erythroplakia, the most common OPMD.
Assuntos
Actinas/metabolismo , Carcinoma de Células Escamosas/patologia , Neoplasias Bucais/patologia , Miofibroblastos/patologia , Fibrose Oral Submucosa/patologia , Lesões Pré-Cancerosas/patologia , Transformação Celular Neoplásica , Humanos , Miofibroblastos/metabolismo , Fibrose Oral Submucosa/metabolismo , Lesões Pré-Cancerosas/metabolismoRESUMO
BACKGROUND: A new intercellular communication mode established by neoplastic cells and tumor microenvironment components is based on extracellular vesicles (EVs). However, the biological effects of the EVs released by tumor cells on angiogenesis are not completely understood. Here, we aimed to understand the biological effects of EVs isolated from two cell lines of oral squamous cell carcinoma (OSCC) (SCC15 and HSC3) on endothelial cell tubulogenesis. METHODS: OSCC-derived EVs were isolated with a polymer-based precipitation method, quantified using nanoparticle tracking analysis and verified for EV markers by dot blot. Functional assays were performed to assess the angiogenic potential of the OSCC-derived EVs. RESULTS: The results showed that EVs derived from both cell lines displayed typical spherical-shaped morphology and expressed the EV markers CD63 and Annexin II. Although the average particle concentration and size were quite similar, SCC15-derived EVs promoted a pronounced tubular formation associated with significant migration and apoptosis rates of the endothelial cells, whereas EVs derived from HSC3 cells inhibited significantly endothelial cell tubulogenesis and proliferation. CONCLUSION: The findings of this study reveal that EVs derived from different OSCC cell lines by a polymer-based precipitation method promote pro- or anti-angiogenic effects.
Assuntos
Carcinoma de Células Escamosas/fisiopatologia , Vesículas Extracelulares/fisiologia , Células Endoteliais da Veia Umbilical Humana/fisiologia , Neoplasias Bucais/fisiopatologia , Neovascularização Patológica/fisiopatologia , Apoptose , Comunicação Celular , Linhagem Celular Tumoral , Movimento Celular , HumanosRESUMO
OBJECTIVE: To describe the clinical and genetic features of patients with cherubism. MATERIAL AND METHODS: A descriptive analysis of 14 cases from nine different families was carried out. Clinicopathological, imaging, and follow-up data were retrieved from patients' medical files and correlated with the genetic profile of each patient. Genomic DNA isolated from buccal mucosa cells was subjected to direct sequencing analysis of the SH3BP2 gene. RESULTS: Females were more affected than males (8:6), and the mean age at diagnosis was 8.6 years (range 3-30 years). Eleven patients exhibited simultaneous bilateral involvement of the maxilla and mandible. Two patients did not have a familial history of cherubism. Progressive growth pattern was found in six patients and stable lesions were observed in other seven patients, whereas in one patient, complete spontaneous remission was documented during the follow-up (31 years). Mutations were found in 13 cases and included the typical heterozygous missense mutations R415Q, P418T, and P418H at exon 9 of SH3BP2. No correlation between the mutations and the clinical manifestations was observed. CONCLUSION: Three different point mutations in the SH3BP2 gene were detected with variable clinical involvement. Genotype-phenotype association studies in larger population with cherubism are necessary to provide important knowledge about molecular mechanisms related to the disease.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Querubismo/diagnóstico por imagem , Querubismo/genética , Adolescente , Adulto , Criança , Pré-Escolar , Progressão da Doença , Feminino , Genótipo , Humanos , Masculino , Mandíbula/diagnóstico por imagem , Maxila/diagnóstico por imagem , Mutação de Sentido Incorreto , Fenótipo , Radiografia , Remissão Espontânea , Análise de Sequência de DNA , Adulto JovemAssuntos
Anodontia/genética , Ectodisplasinas/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mutação , Anodontia/metabolismo , Brasil , Criança , Simulação por Computador , Análise Mutacional de DNA , Ectodisplasinas/química , Ectodisplasinas/metabolismo , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/metabolismo , Humanos , Masculino , Modelos Moleculares , Linhagem , Conformação Proteica , Sequenciamento do ExomaRESUMO
OBJECTIVE: This study evaluated the association of four histopathological grading systems (WHO grading system, malignancy grading of the deep invasive margins (MG), histological risk (HR) model, and tumor budding and depth of invasion (BD) model) with clinicopathological parameters and outcome of 113 oral squamous cell carcinomas to identify their roles in prognosis. METHODS: Demographic and clinical features were obtained from patients' records. Sections from all paraffin-embedded blocks were evaluated according to the four grading systems. Demographic and clinical associations were analyzed using chi-square test, and correlations between the grading systems were established with the Spearman's rank correlation test. Survival curves were performed with Kaplan-Meier method, and multivariate analysis based on Cox proportional hazard model was calculated. RESULTS: Significant associations with survival were observed for WHO grading system and BD model in the univariate analysis, but only the BD model was significantly associated with disease outcome as an independent prognostic marker. Age, tumor size, and presence of regional metastasis were also independent markers of reduced survival. CONCLUSION: A significant association between the BD model and outcome of OSCC patients was observed, indicating this new histopathological grading system as a possible prognostic tool.
Assuntos
Carcinoma de Células Escamosas/patologia , Neoplasias Bucais/patologia , Gradação de Tumores/métodos , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/secundário , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Taxa de Sobrevida , Carga TumoralRESUMO
The prognostication of patient outcome is one of the greatest challenges in the management of early stage oral tongue squamous cell carcinoma (OTSCC). This study introduces a simple histopathological model for the prognostication of survival in patients with early OTSCC. A total of 311 cases (from Finland and Brazil) with clinically evaluated early stage OTSCC (cT1-T2cN0cM0) were included in this multicentre retrospective study. Tumour budding (B) and depth of invasion (D) were scored on haematoxylin-eosin-stained cancer slides. The cut-off point for tumour budding was set at 5 buds (low <5; high ≥5) and for depth of invasion at 4mm (low <4mm; high ≥4mm). The scores of B and D were combined into one model: the BD predictive model. On multivariate analysis, a high risk score (BD score 2) correlated significantly with loco-regional recurrence (P=0.033) and death due to OTSCC (P<0.001) in early stage OTSCC. The new BD model is a promising prognostic tool to identify those patients with aggressive cases of early stage OTSCC who might benefit from multimodality treatment.
Assuntos
Carcinoma de Células Escamosas/patologia , Neoplasias da Língua/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Carcinoma de Células Escamosas/mortalidade , Criança , Feminino , Finlândia/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Estadiamento de Neoplasias , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Medição de Risco , Análise de Sobrevida , Neoplasias da Língua/mortalidadeRESUMO
Although several histopathological parameters and grading systems have been described as predictive of the treatment response and outcome of oral squamous cell carcinoma (OSCC), none is universally accepted. A new scoring system, the histological risk model, was recently described to be a powerful predictive tool for recurrence and overall survival in OSCC. The aim of this study was to verify the predictive role of the histological risk model in a cohort of 202 patients at all stages of oral/mobile tongue squamous cell carcinoma (OTSCC). Demographic and clinical data were collected from the medical records and the tumours were evaluated using the histological risk model. Statistical analyses were performed using the χ(2) test, the Kaplan-Meier method, and the Cox regression model. The histological risk model showed no statistical correlation with demographic or clinical parameters and did not Predict the outcome of the OTSCC patients. However, multivariate regression analysis revealed a significant correlation of the clinical disease stage with the disease outcome. Despite major efforts to identify new predictive parameters and histological systems, clinical features are still the most reliable prognostic factors for patients with OTSCC.
Assuntos
Carcinoma de Células Escamosas/patologia , Neoplasias Bucais/patologia , Neoplasias da Língua/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Demografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Invasividade Neoplásica , Recidiva Local de Neoplasia , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Medição de Risco , Análise de SobrevidaRESUMO
BACKGROUND: Fatty acid synthase (FASN) is overexpressed and associated with poor prognosis in several human cancers. Here, we investigate the effect of FASN inhibitors on the metastatic spread and angiogenesis in experimental melanomas and cultured melanoma cells. METHODS: The lung colonisation assay and cutaneous melanomas were performed by the inoculation of mouse melanoma B16-F10 cells in C57BL6 mice. Blood vessel endothelial cells (RAEC and HUVEC) were applied to determine cell proliferation, apoptosis, and the formation of capillary-like structures. Vascular endothelial growth factor A (VEGFA) expression was evaluated by quantitative RT-PCR and ELISA in B16-F10, human melanoma (SK-MEL-25), and human oral squamous carcinoma (SCC-9) cells. Conditioned media from these cancer cell lines were used to study the effects of FASN inhibitors on endothelial cells. RESULTS: B16-F10 melanoma-induced metastases and angiogenesis were significantly reduced in orlistat-treated mice. Fatty acid synthase inhibitors reduced the viability, proliferation, and the formation of capillary-like structures by RAEC cells, as well as the tumour cell-mediated formation of HUVEC capillary-like structures. Cerulenin and orlistat stimulated the production of total VEGFA in B16-F10, SK-MEL-25, and SCC-9 cells. Both drugs also enhanced VEGFA(121), (165), (189,) and (165b) in SK-MEL-25 and SCC-9 cells. CONCLUSION: FASN inhibitors reduce metastasis and tumour-induced angiogenesis in experimental melanomas, and differentially modulate VEGFA expression in B16-F10 cells.
Assuntos
Antineoplásicos/farmacologia , Inibidores Enzimáticos/farmacologia , Ácido Graxo Sintases/antagonistas & inibidores , Lactonas/farmacologia , Neoplasias Pulmonares/prevenção & controle , Melanoma Experimental/tratamento farmacológico , Melanoma/tratamento farmacológico , Neovascularização Patológica/prevenção & controle , Fator A de Crescimento do Endotélio Vascular/metabolismo , Animais , Apoptose/efeitos dos fármacos , Carcinoma de Células Escamosas/tratamento farmacológico , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Ensaio de Imunoadsorção Enzimática , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Humanos , Neoplasias Pulmonares/secundário , Melanoma/irrigação sanguínea , Melanoma/secundário , Melanoma Experimental/patologia , Camundongos , Camundongos Endogâmicos C57BL , Neoplasias Bucais/tratamento farmacológico , Orlistate , RNA Interferente Pequeno , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fator A de Crescimento do Endotélio Vascular/efeitos dos fármacosRESUMO
BACKGROUND AND OBJECTIVE: Ciclosporin A (CsA)-induced gingival overgrowth is attributed to an exaggerated accumulation of extracellular matrix, which is mainly due to an increased expression of transforming growth factor-ß1 (TGF-ß1). Herein, the in vitro investigation of effects of overexpression of Smad7, a TGF-ß1 signaling inhibitor, in the events associated with CsA-induced extracellular matrix accumulation was performed. MATERIAL AND METHODS: The effects of Smad7 were assessed by stable overexpression of Smad7 in fibroblasts from normal gingiva. Smad7-overexpressing cells and control cells were incubated with CsA, and synthesis of type I collagen, production and activity of MMP-2 and cellular proliferation were evaluated by ELISA, zymography, growth curve, bromodeoxyuridine incorporation assay and cell cycle analysis. The effects of CsA on cell viability and apoptosis of fibroblasts from normal gingiva were also evaluated. Western blot and immunofluorescence for phospho-Smad2 were performed to measure the activation of TGF-ß1 signaling. RESULTS: Although the treatment with CsA stimulated TGF-ß1 production in both control and Smad7-overexpressing fibroblasts, its signaling was markedly inhibited in Smad7-overexpressing cells, as revealed by low levels of phospho-Smad2. In Smad7-overexpressing cells, the effects of CsA on proliferation, synthesis of type I collagen and the production and activity of MMP-2 were significantly blocked. Smad7 overexpression blocked CsA-induced fibroblast proliferation via p27 regulation. Neither CsA nor Smad7 overexpression induced cell death. CONCLUSION: The data presented here confirm that TGF-ß1 expression is related to the molecular events associated with CsA-induced gingival overgrowth and suggest that Smad7 overexpression is effective in blocking these events, including proliferation, type I collagen synthesis and MMP-2 activity.
Assuntos
Ciclosporina/efeitos adversos , Fibroblastos/efeitos dos fármacos , Gengiva/efeitos dos fármacos , Crescimento Excessivo da Gengiva/induzido quimicamente , Proteína Smad7/farmacologia , Antimetabólitos , Apoptose/efeitos dos fármacos , Bromodesoxiuridina , Técnicas de Cultura de Células , Ciclo Celular/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Colágeno Tipo I/efeitos dos fármacos , Inibidor de Quinase Dependente de Ciclina p27/metabolismo , Ciclosporina/antagonistas & inibidores , Matriz Extracelular/efeitos dos fármacos , Matriz Extracelular/metabolismo , Fibroblastos/metabolismo , Regulação da Expressão Gênica/genética , Gengiva/citologia , Gengiva/metabolismo , Humanos , Masculino , Metaloproteinase 2 da Matriz/efeitos dos fármacos , Fosforilação , Inibidores de Proteínas Quinases/metabolismo , Transdução de Sinais/efeitos dos fármacos , Proteína Smad2/efeitos dos fármacos , Proteína Smad7/genética , Transfecção , Fator de Crescimento Transformador beta1/antagonistas & inibidores , Adulto JovemRESUMO
BACKGROUND: Cleidocranial dysplasia (CCD) is a dominantly inherited autosomal disease characterized by typical bone defects including short stature, persistently open or delayed closure of the cranial sutures, and hypoplastic or aplastic clavicles. Oral features are frequent and include supernumerary teeth, delayed eruption or impaction of the permanent teeth, and malocclusion. Heterozygous mutations in RUNX2 gene, which encodes a transcription factor essential for osteoblast differentiation, were identified as the etiological cause of CCD. OBJECTIVE AND METHODS: Herein, we performed physical and radiographic examination and screening for RUNX2 mutations in 11 patients from five families with CCD. RESULTS: All patients demonstrated the classical phenotypes related to CCD. Families whose affected members had several dental alterations such as multiple impacted and supernumerary teeth demonstrated heterozygous missense mutations (R190Q and R225Q) that impair the runt domain of RUNX2. On the other hand, CCD patients from families with low frequency of dental abnormalities showed no mutation in RUNX2 or mutation outside of the runt domain (Q292fsâX299). CONCLUSION: The current findings suggest a correlation between dental alterations and mutations in the runt domain of RUNX2 in CCD patients. Further clinical and genetic studies are needed to clarify the relationship between phenotypes and genotypes in CCD and to identify other factors that might influence the clinical features of this uncommon disease.
Assuntos
Displasia Cleidocraniana/genética , Subunidade alfa 1 de Fator de Ligação ao Core/genética , Dente Impactado/genética , Dente Supranumerário/genética , Adolescente , Adulto , Criança , Displasia Cleidocraniana/complicações , Análise Mutacional de DNA , Feminino , Mutação da Fase de Leitura , Genes Dominantes , Heterozigoto , Humanos , Masculino , Má Oclusão/etiologia , Má Oclusão/genética , Mutação de Sentido Incorreto , Linhagem , Estrutura Terciária de Proteína/genética , Dente Impactado/etiologia , Dente Supranumerário/etiologia , Adulto JovemRESUMO
OBJECTIVE: The purpose of this study was to evaluate the dentomaxillofacial imaging features of one family affected by the gingival fibromatosis (GF) and dental abnormalities (DA) syndrome. METHODS: Conventional radiographs (periapical and panoramic) and cone beam CT (CBCT) were performed in nine members of this family: four were affected by the syndrome and five were not. RESULTS: The four affected members demonstrated mild generalized GF in association with DA, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay on tooth eruption and pericoronal radiolucencies in unerupted teeth. None of these oral changes were identified in the five unaffected members. All nine members presented alterations in the paranasal sinuses and mucosal thickening of the maxillary sinus was the most common finding. CONCLUSION: Family members not affected by the syndrome showed similar alterations in the paranasal sinuses and CBCT was useful to characterize the dentomaxillofacial features of this new syndrome associating GF and DA.
Assuntos
Fibromatose Gengival/diagnóstico por imagem , Adolescente , Adulto , Amelogênese Imperfeita/diagnóstico por imagem , Amelogênese Imperfeita/genética , Tomografia Computadorizada de Feixe Cônico , Consanguinidade , Calcificações da Polpa Dentária/diagnóstico por imagem , Calcificações da Polpa Dentária/genética , Feminino , Fibromatose Gengival/genética , Genes Recessivos , Humanos , Masculino , Pessoa de Meia-Idade , Seios Paranasais/diagnóstico por imagem , Linhagem , Radiografia Dentária/métodos , Síndrome , Dente não Erupcionado/diagnóstico por imagem , Dente não Erupcionado/genética , Adulto JovemRESUMO
The aim of this study was to evaluate the clinicopathological features and immunohistochemical expression of proliferation markers in oral tongue squamous cell carcinomas (OTSCC). Sixty-three patients without previous treatment or distant metastases were selected. Clinical information was retrieved from medical charts, histopathological analysis was performed and expression of proliferation markers (Ki-67, Mcm-2 and geminin) was evaluated. Most patients were men (81%) (male:female ratio 4.25:1). The age range was 31-92 years (mean 57.6 ± 11.81 years). A high Anneroth score was associated with tumour size (p=0.05), tumoural embolization of the blood vessels (p=0.003), nodal metastasis (p=0.05), nodal capsule rupture (p=0.016) and distant metastasis (p=0.002). Elevated Bryne scores were significantly associated with nodal capsule rupture (p=0.02), distant metastasis (p=0.002), shorter overall survival (OS) (p=0.03) and disease-free survival (DFS) (p=0.05) compared with patients with lower score. Elevated Ki-67+ cells (p=0.05) and Mcm-2+ cells (p=0.008) were associated with nodal metastasis and tumours with a high geminin score demonstrated a significant tendency for neural invasion (p=0.05). Anneroth and Bryne score in association with biomarkers of proliferation can be useful for evaluating the biological behaviour of OTSCC.
Assuntos
Biomarcadores Tumorais/análise , Carcinoma de Células Escamosas/patologia , Neoplasias da Língua/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas , Carcinoma de Células Escamosas/secundário , Proteínas de Ciclo Celular/análise , Proliferação de Células , Intervalo Livre de Doença , Feminino , Seguimentos , Geminina , Humanos , Antígeno Ki-67/análise , Linfonodos/patologia , Metástase Linfática/patologia , Masculino , Pessoa de Meia-Idade , Componente 2 do Complexo de Manutenção de Minicromossomo , Invasividade Neoplásica , Recidiva Local de Neoplasia/patologia , Estadiamento de Neoplasias , Células Neoplásicas Circulantes/patologia , Proteínas Nucleares/análise , Prognóstico , Estudos Retrospectivos , Ruptura Espontânea , Fumar , Taxa de SobrevidaRESUMO
Gingival fibromatosis is an enlargement localized or generalized of the gingival tissue characterized by an expansion and accumulation of the connective tissue, predominantly type I collagen, with occasional presence of increased number of cells, supposed fibroblastic proliferation. Gingival fibromatosis can be induced as a side effect of systemic drugs, such as phenytoin, cyclosporin, and nifedipine, or due to hereditary factors. However, in some cases, the gingival overgrowth is idiopathic. This paper reports two cases of idiopathic gingival fibromatosis and discusses the diagnosis, histopathological features, treatment and immunohistochemical evaluation of myofibroblasts of this condition. The tissues removed were fixed in formalin, and sections used for hematoxylin and eosin and Masson tricromic stain. To determine the presence of myofibroblasts, we performed immunohistochemistry against a-SMA protein. Histological examination revealed epithelial hyperplasia with long rete pegs and increase in the dense fibrous connective tissue. The Masson tricromic stain revealed wide bundles of collagen strongly stained. It was showed negative labeling to a-SMA. These results strongly suggest that myofibroblasts are not involved in gingival overgrowth in the cases of IGF reported. Future studies will be necessary to determine the pathogenesis of idiopathic gingival fibromatosis.
Assuntos
Fibromatose Gengival , Adulto , Criança , Fibromatose Gengival/patologia , Fibromatose Gengival/terapia , Humanos , MasculinoRESUMO
BACKGROUND: Interferon regulatory factor 6 (IRF6) gene has emerged as a potential susceptibility gene for non-syndromic cleft lip and/or palate (NSCL/P) in different populations. The aim of this study was to determine the association of IRF6 rs2235371 and rs642961 polymorphisms with NSCL/P in a Brazilian population. METHODS: Two hundred and twenty-eight patients affected by NSCL/P and 126 healthy individuals were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. RESULTS: Overall genotype distributions of rs2235371 and rs642961 polymorphisms were as expected by Hardy-Weinberg equilibrium test. The rs2235371 polymorphic genotype GA was identified in 10.1% of the patients with NSCL/P and in 10.3% of the control group, revealing no statistical difference. Similarly, the frequency of rs642961 minor genotypes (GA and AA) was quite similar between control group (28.6%) and NSCL/P group (25.4%), without significant difference. CONCLUSION: Our findings are consistent with a lack of involvement of IRF6 rs2235371 and rs642961 polymorphisms in the NSCL/P pathogenesis in the Brazilian population.